Human disease genes 602391-602512

602281-602390 --- 602513-602642

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
602391: OMIM gene: PHOSPHATIDYLETHANOLAMINE N-METHYLTRANSFERASE; PEMT (link from Ensembl BioMart) ENSP00000255389 ORTHOMCL6779 jaccard_3246
ENSP00000345099 ORTHOMCL6779 jaccard_3246
602392: OMIM gene: HYPOCRETIN RECEPTOR 1; HCRTR1 (link from Ensembl BioMart) ENSP00000263696 ORTHOMCL22884 jaccard_6
602393: OMIM gene: HYPOCRETIN RECEPTOR 2; HCRTR2 (link from Ensembl BioMart) ENSP00000259784 ORTHOMCL11086 jaccard_6
602394: OMIM gene: NUCLEOLAR AND COILED-BODY PHOSPHOPROTEIN 1; NOLC1 (link from Ensembl BioMart) ENSP00000299255 ORTHOMCL1187 jaccard_2368
602395: OMIM gene: GLYCEROL-3-PHOSPHATE ACYLTRANSFERASE, MITOCHONDRIAL Gene map locus 10q24-q26 (link from Ensembl BioMart) ENSP00000347016 ORTHOMCL2641 jaccard_1116
602396: OMIM gene: ANNEXIN A8; ANXA8 Gene map locus 10q11.2 (link from Ensembl BioMart) ENSP00000347594 ORTHOMCL7644 jaccard_148
602397: OMIM gene: ATPase, CLASS I, TYPE 8B, MEMBER 1; ATP8B1 Gene map locus 18q21 (link from Ensembl BioMart) ENSP00000283684 ORTHOMCL80 jaccard_30
602398: OMIM phenotype: DESMOSTEROLOSIS Gene map locus 1p33-p31.1 (link from NCBI) ENSP00000234746 ORTHOMCL8035 jaccard_4584
602399: OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE 12; MAPK12 Gene map locus 22q13.3 (link from Ensembl BioMart) ENSP00000215659 ORTHOMCL7356 jaccard_28
602402: OMIM gene: FORKHEAD BOX C2; FOXC2 LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, INCLUDED Gene map locus 16q24.3 (link from Ensembl BioMart) ENSP00000326371 ORTHOMCL19595 jaccard_297
602403: OMIM gene: BLEOMYCIN HYDROLASE; BLMH Gene map locus 17q11.2 (link from Ensembl BioMart) ENSP00000261714 ORTHOMCL7462 jaccard_4474
602406: OMIM gene: HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 1; HAND1 (link from Ensembl BioMart) ENSP00000231121 ORTHOMCL19124 jaccard_8850
602407: OMIM gene: HEART- AND NEURAL CREST DERIVATIVES-EXPRESSED 2; HAND2 Gene map locus 4q33 (link from Ensembl BioMart) ENSP00000352565 ORTHOMCL8708 jaccard_9364
602408: OMIM gene: NUCLEAR RECEPTOR SUBFAMILY 1, GROUP D, MEMBER 1; NR1D1 Gene map locus 17q11.2 (link from Ensembl BioMart) ENSP00000246672 ORTHOMCL3837 jaccard_18
602410: OMIM gene: BROMODOMAIN AND PHD FINGER-CONTAINING PROTEIN; BRPF1 Gene map locus 3p26-p25 (link from Ensembl BioMart) ENSP00000306297 ORTHOMCL1365 jaccard_2515
602411: OMIM gene: EXOSTOSIN-LIKE 2; EXTL2 Gene map locus 1p12-p11 (link from Ensembl BioMart) ENSP00000294729 ORTHOMCL8567 jaccard_4288
602412: OMIM gene: RIBOSOMAL PROTEIN S24; RPS24 Gene map locus 10q22-q23 (link from Ensembl BioMart) ENSP00000350214 ORTHOMCL1285 jaccard_1383
ENSP00000336696 ORTHOMCL1285 jaccard_1383
ENSP00000354074 ORTHOMCL1285 jaccard_1383
602413: OMIM gene: SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C, INTEGRAL MEMBRANE PROTEIN, 15-KD; SDHC Gene map locus 1q21 (link from Ensembl BioMart) ENSP00000271481 ORTHOMCL4943 jaccard_3158
ENSP00000226102 jaccard_3158
602414: OMIM gene: AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 1; APBA1 Gene map locus 9q13 (link from Ensembl BioMart) ENSP00000265381 ORTHOMCL9641 jaccard_1150
602415: OMIM gene: DYSTROBREVIN, BETA; DTNB Gene map locus 2p23-p22 (link from Ensembl BioMart) ENSP00000302644 ORTHOMCL1681 jaccard_644
ENSP00000288642 ORTHOMCL1681 jaccard_644
ENSP00000340957 jaccard_644
ENSP00000349007 ORTHOMCL1681 jaccard_644
602416: OMIM gene: ADAPTOR-RELATED PROTEIN COMPLEX 3, SIGMA-2 SUBUNIT; AP3S2 (link from Ensembl BioMart) ENSP00000338777 ORTHOMCL2535 jaccard_226
602419: OMIM gene: EARLY GROWTH RESPONSE 3; EGR3 Gene map locus 8p23-p21 (link from Ensembl BioMart) ENSP00000318057 ORTHOMCL13377 jaccard_8349
602420: OMIM gene: POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 10; KCNA10 Gene map locus 1p13.1 (link from Ensembl BioMart) ENSP00000271307 ORTHOMCL2814 jaccard_97
602421: OMIM gene: CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR Gene map locus 7q31.2 (link from Ensembl BioMart) ENSP00000003084 ORTHOMCL10664 jaccard_44
602422: OMIM gene: STEM-LOOP BINDING PROTEIN; SLBP Gene map locus 4p16.3 (link from Ensembl BioMart) ENSP00000316490 ORTHOMCL5234 jaccard_3661
602423: OMIM gene: NUCLEAR RECEPTOR SUBFAMILY 1, GROUP H, MEMBER 3; NR1H3 (link from Ensembl BioMart) ENSP00000342470 ORTHOMCL1697 jaccard_18
602424: OMIM gene: DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 1; DMRT1 Gene map locus 9p24.3 (link from Ensembl BioMart) ENSP00000223955 ORTHOMCL11650 jaccard_7267
602425: OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 4; MAP3K4 Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000265125 ORTHOMCL2163 jaccard_3013
ENSP00000297332 ORTHOMCL2163 jaccard_3013
602426: OMIM gene: NUCLEAR VALOSIN-CONTAINING PROTEIN-LIKE; NVL Gene map locus 1q41-q42.2 (link from Ensembl BioMart) ENSP00000354779 ORTHOMCL2167 jaccard_60
ENSP00000342961 ORTHOMCL2167 jaccard_60
ENSP00000281701 ORTHOMCL2167 jaccard_60
602427: OMIM gene: T-BOX 6; TBX6 Gene map locus 16p11.2 (link from Ensembl BioMart) ENSP00000279386 ORTHOMCL6672 jaccard_166
602428: OMIM gene: HYALURONAN SYNTHASE 3; HAS3 Gene map locus 16q22.1 (link from Ensembl BioMart) ENSP00000219322
ENSP00000304440 ORTHOMCL5677 jaccard_2443
602430: OMIM gene: ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 1; ROBO1 DELETED IN U TWENTY TWENTY, INCLUDED; DUTT1, INCLUDED Gene map locus 3p12 (link from Ensembl BioMart) ENSP00000342509 ORTHOMCL996 jaccard_2
602431: OMIM gene: ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 2; ROBO2 (link from Ensembl BioMart) ENSP00000327536 ORTHOMCL996 jaccard_2
602432: OMIM gene: OPTINEURIN; OPTN Gene map locus 10p15-p14 (link from Ensembl BioMart) ENSP00000337481 ORTHOMCL7703 jaccard_3
ENSP00000263036 ORTHOMCL7703 jaccard_3
602433: OMIM phenotype: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4 Gene map locus 9q34 (link from Ensembl BioMart) ENSP00000224140 ORTHOMCL1408 jaccard_11847
602434: OMIM gene: ANCIENT UBIQUITOUS PROTEIN 1; AUP1 Gene map locus 2p13 (link from Ensembl BioMart) ENSP00000334921 ORTHOMCL8175 jaccard_5222
ENSP00000258081 ORTHOMCL8175 jaccard_5222
602435: OMIM gene: PEPTIDYL-PROLYL ISOMERASE E; PPIE (link from Ensembl BioMart) ENSP00000348904 jaccard_98
ENSP00000312769 ORTHOMCL11221 jaccard_98
602437: OMIM gene: GTP CYCLOHYDROLASE I FEEDBACK REGULATORY PROTEIN; GCHFR (link from Ensembl BioMart) ENSP00000260447 ORTHOMCL17080 jaccard_9583
602438: OMIM gene: HEAT-SHOCK TRANSCRIPTION FACTOR 4; HSF4 Gene map locus 16q21-q22.1 (link from Ensembl BioMart) ENSP00000264009 ORTHOMCL21972 jaccard_593
602441: OMIM gene: CYTOKINE-INDUCIBLE SH2-CONTAINING PROTEIN; CISH Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000294173 ORTHOMCL4227 jaccard_1078
602443: OMIM gene: X-PROLYL AMINOPEPTIDASE 1; XPNPEP1 Gene map locus 10q25.3 (link from Ensembl BioMart) ENSP00000225033 ORTHOMCL1772 jaccard_1375
602444: OMIM gene: TRANSCRIPTION FACTOR 17; TCF17 Gene map locus 5q35.3 (link from Ensembl BioMart) ENSP00000337122 ORTHOMCL13398 jaccard_6819
602445: OMIM gene: PROTEASE INHIBITOR 12; PI12 Gene map locus 3q26 (link from Ensembl BioMart) ENSP00000295777 ORTHOMCL52 jaccard_51
602446: OMIM gene: GLYPICAN 5; GPC5 Gene map locus 13q32 (link from Ensembl BioMart) ENSP00000320553 ORTHOMCL11846 jaccard_1068
602447: OMIM gene: PARAOXONASE 2; PON2 Gene map locus 7q21.3 (link from Ensembl BioMart) ENSP00000347881 ORTHOMCL3031 jaccard_1656
ENSP00000222572 ORTHOMCL3031 jaccard_1656
602448: OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 5; MAP3K5 Gene map locus 6q22.33 (link from Ensembl BioMart) ENSP00000351908 ORTHOMCL245 jaccard_1212
602449: OMIM gene: A-KINASE ANCHOR PROTEIN 1; AKAP1 Gene map locus Chr.17 (link from Ensembl BioMart) ENSP00000337736 ORTHOMCL2716 jaccard_3023
ENSP00000314075 ORTHOMCL2716 jaccard_3023
602450: OMIM phenotype: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE, INCLUDED; SCIDA, INCLUDED Gene map locus 10p (link from NCBI) ENSP00000350349 ORTHOMCL9598 jaccard_1972
ENSP00000298913 ORTHOMCL9598 jaccard_1972
602451: OMIM gene: PYRIMIDINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 6; P2RY6 Gene map locus 11q13.5 (link from Ensembl BioMart) ENSP00000309771 ORTHOMCL10324 jaccard_6
602452: OMIM gene: BUDDING UNINHIBITED BY BENZIMIDAZOLES 1, S. CEREVISIAE, HOMOLOG OF; BUB1 Gene map locus 2q14 (link from Ensembl BioMart) ENSP00000302530 ORTHOMCL1981 jaccard_3581
602453: OMIM gene: INTEGRIN, ALPHA-D; ITGAD Gene map locus 16p11.2 (link from Ensembl BioMart) ENSP00000268297 ORTHOMCL1640 jaccard_160
602454: OMIM gene: PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, U; PTPRU Gene map locus 12p13.3-p13.2 (link from Ensembl BioMart) ENSP00000349333 ORTHOMCL808 jaccard_2
ENSP00000314987 ORTHOMCL808 jaccard_2
ENSP00000270880 ORTHOMCL808 jaccard_2
ENSP00000334941 ORTHOMCL808 jaccard_2
602455: OMIM phenotype: REGENERATION-ASSOCIATED SERPIN-1 (link from Ensembl BioMart) ENSP00000261994 ORTHOMCL12540 jaccard_51
602457: OMIM gene: FAS-ASSOCIATED VIA DEATH DOMAIN; FADD Gene map locus 11q13.3 (link from Ensembl BioMart) ENSP00000301838 ORTHOMCL12280 jaccard_6934
602458: OMIM gene: SORTILIN; SORT1 Gene map locus 1p21.3-p13.1 (link from Ensembl BioMart) ENSP00000256637 ORTHOMCL9458 jaccard_794
602459: OMIM phenotype: DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 15; DFNA15 Gene map locus 5q31 (link from NCBI) ENSP00000230732 ORTHOMCL1972 jaccard_232
602460: OMIM gene: POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 3; POU4F3 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000230732 ORTHOMCL1972 jaccard_232
602461: OMIM gene: PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR TYPE, SUBSTRATE 1; PTPNS1 Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000348307 ORTHOMCL2274 jaccard_93
ENSP00000351621 ORTHOMCL2274 jaccard_93
602462: OMIM gene: COLLAPSIN RESPONSE MEDIATOR PROTEIN 1; CRMP1 Gene map locus 4p16.1-p15 (link from Ensembl BioMart) ENSP00000321606 ORTHOMCL11700 jaccard_486
602463: OMIM gene: DIHYDROPYRIMIDINASE-LIKE 2; DPYSL2 Gene map locus 8p21 (link from Ensembl BioMart) ENSP00000309539 ORTHOMCL9712 jaccard_486
602464: OMIM gene: TNF RECEPTOR-ASSOCIATED FACTOR 4; TRAF4 (link from Ensembl BioMart) ENSP00000262395 ORTHOMCL9666 jaccard_575
ENSP00000262396
602465: OMIM gene: SPROUTY, DROSOPHILA, HOMOLOG OF, 1; SPRY1 Gene map locus Chr.4 (link from Ensembl BioMart) ENSP00000343785 ORTHOMCL8608 jaccard_1985
602466: OMIM gene: SPROUTY, DROSOPHILA, HOMOLOG OF, 2; SPRY2 Gene map locus Chr.13 (link from Ensembl BioMart) ENSP00000258661 ORTHOMCL8480 jaccard_1985
602468: OMIM gene: PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 9A; PPP1R9A Gene map locus 7q21.3 (link from Ensembl BioMart) ENSP00000344524 ORTHOMCL1360 jaccard_7994
ENSP00000289495 jaccard_5673
602469: OMIM gene: FOLATE RECEPTOR 3; FOLR3 (link from Ensembl BioMart) ENSP00000325032 ORTHOMCL12454 jaccard_2138
602470: OMIM gene: PROSTATE STEM CELL ANTIGEN Gene map locus 8q24.2 (link from Ensembl BioMart) ENSP00000301258 ORTHOMCL15341 jaccard_652
602473: OMIM phenotype: ENCEPHALOPATHY, ETHYLMALONIC Gene map locus 19q13.32 (link from NCBI) ENSP00000292147 ORTHOMCL6198 jaccard_679
602474: OMIM gene: CDC2-INHIBITORY KINASE, MEMBRANE-ASSOCIATED AND TYROSINE/THREONINE-SPECIFIC, 1 (link from Ensembl BioMart) ENSP00000262300 ORTHOMCL4641 jaccard_11821
602475: OMIM phenotype: OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE; OPLL Gene map locus 21q22.3, 6q22-q23 (link from NCBI) ENSP00000355180 ORTHOMCL10883 jaccard_2
ENSP00000354238 ORTHOMCL1898 jaccard_420
602478: OMIM gene: DNA METHYLTRANSFERASE 2; DNMT2 Gene map locus 10p15.1 (link from Ensembl BioMart) ENSP00000351027 ORTHOMCL10943 jaccard_7460
ENSP00000324378 ORTHOMCL4452 jaccard_3573
ENSP00000324328 ORTHOMCL4452 jaccard_3573
ENSP00000346652 ORTHOMCL4452 jaccard_3573
ENSP00000324263 ORTHOMCL10943 jaccard_7460
602479: OMIM gene: POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 1; POU3F1 Gene map locus 1p34.1 (link from Ensembl BioMart) ENSP00000327530 ORTHOMCL6820
602480: OMIM gene: POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 3; POU3F3 Gene map locus 3p14.2 (link from Ensembl BioMart) ENSP00000355001 ORTHOMCL6820 jaccard_9745
602481: OMIM phenotype: MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 MIGRAINE, FAMILIAL BASILAR, INCLUDED Gene map locus 1q21-q23 (link from NCBI) ENSP00000251207 ORTHOMCL235 jaccard_30
ENSP00000354490 ORTHOMCL235 jaccard_30
602485: OMIM phenotype: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3; HHF3 Gene map locus 11p15.1, 7p15-p13 (link from NCBI) ENSP00000303960 ORTHOMCL2514 jaccard_44
ENSP00000345708 jaccard_224
ENSP00000223366 ORTHOMCL206 jaccard_367
ENSP00000338009 ORTHOMCL206 jaccard_367
ENSP00000350996 ORTHOMCL206 jaccard_367
602486: OMIM gene: PROCESSING OF PRECURSOR 1, S. CEREVISIAE, HOMOLOG OF; POP1 (link from Ensembl BioMart) ENSP00000339529 ORTHOMCL5100 jaccard_4836
602487: OMIM gene: PERCHLORIC ACID-SOLUBLE PROTEIN, 14.5-KD Gene map locus 8q22 (link from Ensembl BioMart) ENSP00000254878 ORTHOMCL2076 jaccard_2238
602489: OMIM gene: KH DOMAIN-CONTAINING, RNA-BINDING, SIGNAL TRANSDUCTION-ASSOCIATED 1; KHDRBS1 (link from Ensembl BioMart) ENSP00000313829 ORTHOMCL8997 jaccard_413
ENSP00000346279 ORTHOMCL8997 jaccard_413
602490: OMIM gene: NUCLEAR RECEPTOR-INTERACTING PROTEIN 1; NRIP1 Gene map locus 21q11 (link from Ensembl BioMart) ENSP00000327213 ORTHOMCL11234 jaccard_4728
602491: OMIM phenotype: HYPERLIPIDEMIA, COMBINED, 1 Gene map locus 1q22-q23 (link from NCBI) ENSP00000289790 ORTHOMCL14167 jaccard_2608
602492: OMIM gene: PENTRAXIN 3; PTX3 Gene map locus 3q25 (link from Ensembl BioMart) ENSP00000295927 ORTHOMCL5494 jaccard_470
602493: OMIM gene: UV RADIATION RESISTANCE-ASSOCIATED GENE; UVRAG Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000348455 ORTHOMCL5689 jaccard_8484
602494: OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 23; CCL23 Gene map locus 17q21.1-q21.2 (link from Ensembl BioMart) ENSP00000293280 ORTHOMCL9099 jaccard_248
602495: OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 24; CCL24 Gene map locus 7q11.23 (link from Ensembl BioMart) ENSP00000222902 ORTHOMCL4437 jaccard_248
602496: OMIM gene: MERCAPTOPYRUVATE SULFURTRANSFERASE; MPST Gene map locus 22q11.2-qter (link from Ensembl BioMart) ENSP00000342333 ORTHOMCL727 jaccard_1198
602498: OMIM gene: TRK-FUSED GENE; TFG TRKT3 ONCOGENE, INCLUDED Gene map locus 3q11-q12 (link from Ensembl BioMart) ENSP00000240851 ORTHOMCL16537 jaccard_9328
602500: OMIM gene: GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY B, 1; GOLGB1 (link from Ensembl BioMart) ENSP00000341848 ORTHOMCL11279 jaccard_3
602502: OMIM gene: GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 1; GOLGA1 (link from Ensembl BioMart) ENSP00000259462 ORTHOMCL9569
602503: OMIM gene: FREQUENTLY REARRANGED IN ADVANCED T-CELL LYMPHOMAS; FRAT1 (link from Ensembl BioMart) ENSP00000346690 ORTHOMCL10909 jaccard_6377
602504: OMIM gene: SHORT STATURE HOMEOBOX 2; SHOX2 Gene map locus 3q25-q26 (link from Ensembl BioMart) ENSP00000327294 ORTHOMCL9971 jaccard_5108
602505: OMIM gene: PAXILLIN; PXN Gene map locus 12q24 (link from Ensembl BioMart) ENSP00000331829 jaccard_37
602506: OMIM gene: CYCLIN T1; CCNT1 Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000261900 ORTHOMCL12886 jaccard_266
602507: OMIM gene: ZINC FINGER PROTEIN 103, MOUSE, HOMOLOG OF; ZFP103 Gene map locus 2p11.2 (link from Ensembl BioMart) ENSP00000237455 ORTHOMCL10377 jaccard_6520
602508: OMIM gene: PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, BETA SUBUNIT; PAFAH1B2 Gene map locus 11q23 (link from Ensembl BioMart) ENSP00000304006 ORTHOMCL3452 jaccard_2892
602509: OMIM gene: GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 4; GOLGA4 Gene map locus 3p22-p21.3 (link from Ensembl BioMart) ENSP00000354486 ORTHOMCL1403 jaccard_3
602512: OMIM gene: REGULATOR OF G PROTEIN SIGNALING 12; RGS12 (link from Ensembl BioMart) ENSP00000325204 ORTHOMCL1041 jaccard_2287
ENSP00000338509 ORTHOMCL1041 jaccard_2287
ENSP00000342133 ORTHOMCL1041 jaccard_1665
ENSP00000304459 ORTHOMCL23965 jaccard_1665
ENSP00000339381 ORTHOMCL1041 jaccard_2287