Human disease genes 604141-604256

604032-604140 --- 604258-604387

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
604141: OMIM gene: BREFELDIN A-INHIBITED GUANINE NUCLEOTIDE EXCHANGE PROTEIN 1 Gene map locus 8q13 (link from Ensembl BioMart) ENSP00000262215 ORTHOMCL1945 jaccard_611
604142: OMIM gene: TYRO PROTEIN TYROSINE KINASE-BINDING PROTEIN; TYROBP Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000262629 ORTHOMCL22777 jaccard_14527
604143: OMIM gene: EXTRA SPINDLE POLES-LIKE 1; ESPL1 (link from Ensembl BioMart) ENSP00000257934 ORTHOMCL3333 jaccard_5780
604144: OMIM gene: SOLUTE CARRIER FAMILY 7, MEMBER 9; SLC7A9 Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000023064 ORTHOMCL11005 jaccard_107
604145: OMIM phenotype: CARDIOMYOPATHY, DILATED, 1G; CMD1G Gene map locus 2q24.3 (link from NCBI) ENSP00000286104 ORTHOMCL56 jaccard_2
ENSP00000354117 ORTHOMCL56 jaccard_2
ENSP00000352154 ORTHOMCL56 jaccard_2
ENSP00000348444
ENSP00000340554 ORTHOMCL56 jaccard_2
604146: OMIM gene: SYNAPTOTAGMIN 7; SYT7 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000263846 ORTHOMCL2392 jaccard_46
604148: OMIM gene: SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER), MEMBER 2; SLC13A2 Gene map locus 17p11.1-q11.1 (link from Ensembl BioMart) ENSP00000316202 ORTHOMCL542 jaccard_581
604149: OMIM gene: SARCOGLYCAN, EPSILON; SGCE Gene map locus 7q21 (link from Ensembl BioMart) ENSP00000265735 ORTHOMCL9206 jaccard_2254
604150: OMIM gene: POLYMERASE II, RNA, SUBUNIT J; POLR2J Gene map locus 7q22-q31.1 (link from Ensembl BioMart) ENSP00000292614 ORTHOMCL1377 jaccard_983
604151: OMIM gene: UBIQUITIN-CONJUGATING ENZYME E2E 3; UBE2E3 Gene map locus 2q32.1 (link from Ensembl BioMart) ENSP00000307109 ORTHOMCL8468 jaccard_42
604152: OMIM gene: ORNITHINE DECARBOXYLASE ANTIZYME 2; OAZ2 (link from Ensembl BioMart) ENSP00000316264 ORTHOMCL16756 jaccard_2435
604153: OMIM gene: NEUROMEDIN U RECEPTOR 1; NMUR1 (link from Ensembl BioMart) ENSP00000305877 ORTHOMCL1562 jaccard_6
604155: OMIM gene: LanC-LIKE 1; LANCL1 Gene map locus 2q34 (link from Ensembl BioMart) ENSP00000233714 ORTHOMCL1326 jaccard_1776
604156: OMIM gene: SECRETED FRIZZLED-RELATED PROTEIN 1; SFRP1 Gene map locus 8p12-p11.1 (link from Ensembl BioMart) ENSP00000220772 ORTHOMCL16320 jaccard_1372
604157: OMIM gene: SECRETED FRIZZLED-RELATED PROTEIN 2; SFRP2 Gene map locus 4q31.3 (link from Ensembl BioMart) ENSP00000274063 ORTHOMCL15056 jaccard_1372
604158: OMIM gene: SECRETED FRIZZLED-RELATED PROTEIN 5; SFRP5 Gene map locus 10q24.1 (link from Ensembl BioMart) ENSP00000266066 ORTHOMCL13330 jaccard_1372
604159: OMIM gene: SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GLYCINE), MEMBER 5; SLC6A5 Gene map locus 11p15.2-p15.1 (link from Ensembl BioMart) ENSP00000298923 ORTHOMCL2215 jaccard_89
604160: OMIM gene: INTEGRIN, BETA-8; ITGB8 (link from Ensembl BioMart) ENSP00000222573 jaccard_347
604161: OMIM gene: G PROTEIN-COUPLED RECEPTOR 54; GPR54 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000234371 ORTHOMCL9557 jaccard_6
604163: OMIM gene: RIBOSOMAL PROTEIN L3; RPL3 Gene map locus 22q (link from Ensembl BioMart) ENSP00000349435 ORTHOMCL1070 jaccard_762
ENSP00000346001 ORTHOMCL1070 jaccard_762
604164: OMIM gene: ONE CUT DOMAIN, FAMILY MEMBER 1; ONECUT1 Gene map locus 15q21.1-q21.2 (link from Ensembl BioMart) ENSP00000302630 ORTHOMCL9936 jaccard_2454
604165: OMIM gene: SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, OXOGLUTARATE CARRIER), MEMBER 11; SLC25A11 Gene map locus 17p13.3 (link from Ensembl BioMart) ENSP00000225665 ORTHOMCL4029 jaccard_27
604166: OMIM gene: RIBOSOMAL PROTEIN L7; RPL7 Gene map locus 8q (link from Ensembl BioMart) ENSP00000339795 ORTHOMCL517 jaccard_388
604167: OMIM gene: CCCTC-BINDING FACTOR; CTCF Gene map locus 16q22.1 (link from Ensembl BioMart) ENSP00000264010 ORTHOMCL9130 jaccard_14812
604168: OMIM phenotype: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY Gene map locus 18q23 (link from NCBI) ENSP00000075430 ORTHOMCL812 jaccard_5690
ENSP00000299543 ORTHOMCL812 jaccard_5690
604169: OMIM phenotype: NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1; LVNC1 Gene map locus 18q12.1-q12.2 (link from NCBI) ENSP00000269190 ORTHOMCL12918 jaccard_644
ENSP00000336682 ORTHOMCL15769 jaccard_644
ENSP00000322519 ORTHOMCL21731 jaccard_644
ENSP00000299328 ORTHOMCL4282 jaccard_1878
ENSP00000269192
ENSP00000283365 ORTHOMCL12918 jaccard_644
ENSP00000269191 ORTHOMCL15769 jaccard_644
604170: OMIM gene: PHOSPHOLIPID SCRAMBLASE 1; PLSCR1 Gene map locus 3q23 (link from Ensembl BioMart) ENSP00000345494 ORTHOMCL2371 jaccard_820
604171: OMIM gene: THO COMPLEX, SUBUNIT 4; THOC4 Gene map locus 17q25.3 (link from Ensembl BioMart) ENSP00000331817 ORTHOMCL1644 jaccard_434
604174: OMIM gene: RIBOSOMAL PROTEIN L15; RPL15 Gene map locus 3p (link from Ensembl BioMart) ENSP00000309334 ORTHOMCL3424 jaccard_919
604175: OMIM gene: RIBOSOMAL PROTEIN L11; RPL11 Gene map locus 1p36.1-p35 (link from Ensembl BioMart) ENSP00000270799 ORTHOMCL1604 jaccard_1053
604176: OMIM gene: SUPPRESSOR OF CYTOKINE SIGNALING 3 (link from Ensembl BioMart) ENSP00000330341 ORTHOMCL11490 jaccard_1078
604177: OMIM gene: RIBOSOMAL PROTEIN L8; RPL8 Gene map locus 8q (link from Ensembl BioMart) ENSP00000262584 ORTHOMCL2318 jaccard_907
604178: OMIM gene: RIBOSOMAL PROTEIN L18A; RPL18A Gene map locus 19p (link from Ensembl BioMart) ENSP00000222247 ORTHOMCL2242 jaccard_1495
604179: OMIM gene: RIBOSOMAL PROTEIN L18; RPL18 Gene map locus 19q (link from Ensembl BioMart) ENSP00000084795 ORTHOMCL3186 jaccard_2357
604180: OMIM gene: RIBOSOMAL PROTEIN L24; RPL24 Gene map locus 3q (link from Ensembl BioMart) ENSP00000265264 ORTHOMCL3635 jaccard_1057
604181: OMIM gene: RIBOSOMAL PROTEIN L37; RPL37 Gene map locus 5p (link from Ensembl BioMart) ENSP00000274242 ORTHOMCL1829 jaccard_1864
604182: OMIM gene: RIBOSOMAL PROTEIN L38; RPL38 Gene map locus 17q (link from Ensembl BioMart) ENSP00000309830 ORTHOMCL3432 jaccard_2643
604184: OMIM gene: PUTATIVE NEURONAL CELL ADHESION MOLECULE; PUNC Gene map locus 15q22.3-q23 (link from Ensembl BioMart) ENSP00000332773 ORTHOMCL9133 jaccard_2
604186: OMIM gene: CHEMOKINE, CXC MOTIF, LIGAND 14; CXCL14 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000337065 ORTHOMCL8235 jaccard_514
604187: OMIM phenotype: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT; SPG10 Gene map locus 12q13 (link from NCBI) ENSP00000286452 ORTHOMCL3137 jaccard_38
604188: OMIM gene: SELENIUM-BINDING PROTEIN 1; SELENBP1 Gene map locus 1q21-q22 (link from Ensembl BioMart) ENSP00000290533 ORTHOMCL3014 jaccard_2299
604189: OMIM gene: DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY C, MEMBER 4; DNAJC4 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000320548 ORTHOMCL9059 jaccard_4768
604190: OMIM gene: SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; SLC22A4 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000200652 ORTHOMCL19837 jaccard_26
604191: OMIM gene: ZINC FINGER PROTEIN 263; ZNF263 (link from Ensembl BioMart) ENSP00000219069 ORTHOMCL23450 jaccard_1
604193: OMIM gene: SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 3; SLC27A3 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000271857 ORTHOMCL20718 jaccard_47
604194: OMIM gene: SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 4; SLC27A4 Gene map locus Chr.9 (link from Ensembl BioMart) ENSP00000300456 ORTHOMCL1468 jaccard_47
ENSP00000300457 ORTHOMCL1468 jaccard_47
604196: OMIM gene: SOLUTE CARRIER FAMILY 27 (FATTY ACID TRANSPORTER), MEMBER 6; SLC27A6 (link from Ensembl BioMart) ENSP00000262462 ORTHOMCL6730 jaccard_47
604197: OMIM gene: 5,10-@METHENYLTETRAHYDROFOLATE SYNTHETASE; MTHFS (link from Ensembl BioMart) ENSP00000258874 ORTHOMCL3509 jaccard_2952
604198: OMIM gene: RAS-ASSOCIATED PROTEIN RAB11B; RAB11B (link from Ensembl BioMart) ENSP00000333547 ORTHOMCL430 jaccard_8
604199: OMIM gene: RAS-ASSOCIATED PROTEIN RAB35; RAB35 (link from Ensembl BioMart) ENSP00000229340 ORTHOMCL6490 jaccard_8
604200: OMIM gene: SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 5; SIGLEC5 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000222107 ORTHOMCL770 jaccard_2
604202: OMIM gene: SYNAPTOSOMAL-ASSOCIATED PROTEIN, 29-KD; SNAP29 Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000215730 ORTHOMCL5678 jaccard_897
604203: OMIM gene: SYNTAXIN 8; STX8 Gene map locus 17p12 (link from Ensembl BioMart) ENSP00000305255 ORTHOMCL2435 jaccard_999
604204: OMIM gene: SYNTAXIN 17; STX17 Gene map locus 9q31 (link from Ensembl BioMart) ENSP00000259400 ORTHOMCL7211 jaccard_5218
604205: OMIM gene: COPINE I; CPNE1 (link from Ensembl BioMart) ENSP00000336945 ORTHOMCL1192 jaccard_208
ENSP00000326126 ORTHOMCL1192 jaccard_208
ENSP00000317257 ORTHOMCL1192 jaccard_208
604206: OMIM gene: COPINE II; CPNE2 (link from Ensembl BioMart) ENSP00000290776 ORTHOMCL16309 jaccard_208
604207: OMIM gene: COPINE III; CPNE3 Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000198765 ORTHOMCL1192 jaccard_208
604208: OMIM gene: COPINE IV; CPNE4 (link from Ensembl BioMart) ENSP00000350649 ORTHOMCL7435 jaccard_208
604209: OMIM gene: COPINE V; CPNE5 Gene map locus 6p21 (link from Ensembl BioMart) ENSP00000244751 ORTHOMCL2591 jaccard_208
604210: OMIM gene: CRUMBS, DROSOPHILA, HOMOLOG OF, 1; CRB1 LEBER CONGENITAL AMAUROSIS DUE TO DEFECT IN CRB1, INCLUDED Gene map locus 1q31-q32.1 (link from Ensembl BioMart) ENSP00000256772 ORTHOMCL4543 jaccard_5
ENSP00000354915 ORTHOMCL4543 jaccard_5
604212: OMIM gene: POLYADENYLATE-SPECIFIC RIBONUCLEASE; PARN Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000345456 ORTHOMCL6818 jaccard_3823
604214: OMIM gene: CCM1 GENE; CCM1 Gene map locus 7q11.2-q21 (link from Ensembl BioMart) ENSP00000344668 ORTHOMCL8148 jaccard_4698
ENSP00000317061 ORTHOMCL8148 jaccard_4698
604215: OMIM gene: INHIBITOR OF GROWTH 2; ING2 Gene map locus 4q35.1 (link from Ensembl BioMart) ENSP00000307183 ORTHOMCL14191 jaccard_551
604216: OMIM gene: SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 4; SLC17A4 Gene map locus 6p22-p21.3 (link from Ensembl BioMart) ENSP00000353873 ORTHOMCL9874 jaccard_87
ENSP00000274755 ORTHOMCL25093 jaccard_87
ENSP00000355135 ORTHOMCL9874 jaccard_87
ENSP00000355307 ORTHOMCL9874 jaccard_87
604217: OMIM gene: SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 2; SLC34A2 (link from Ensembl BioMart) ENSP00000288586 ORTHOMCL8649 jaccard_1899
604218: OMIM phenotype: ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB Gene map locus 3q26 (link from NCBI) ENSP00000295777 ORTHOMCL52 jaccard_51
604219: OMIM phenotype: CATARACT, AUTOSOMAL DOMINANT Gene map locus 12q13, 3q21-q25 (link from NCBI) ENSP00000264376 ORTHOMCL9340 jaccard_173
ENSP00000291554 ORTHOMCL14147 jaccard_331
ENSP00000215861 ORTHOMCL18516 jaccard_173
ENSP00000282141 ORTHOMCL21175 jaccard_173
ENSP00000257979 ORTHOMCL997 jaccard_122
ENSP00000304987 ORTHOMCL13715 jaccard_0
604220: OMIM gene: ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 1A; ARPC1A (link from Ensembl BioMart) ENSP00000262942 ORTHOMCL1308 jaccard_1613
604221: OMIM gene: ACTIN-RELATED PROTEIN 2; ACTR2 ARP2/3 COMPLEX, INCLUDED (link from Ensembl BioMart) ENSP00000260641 ORTHOMCL6810 jaccard_76
604222: OMIM gene: ACTIN-RELATED PROTEIN 3; ACTR3 (link from Ensembl BioMart) ENSP00000263238 ORTHOMCL4082 jaccard_76
604223: OMIM gene: ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 1B; ARPC1B (link from Ensembl BioMart) ENSP00000252725 ORTHOMCL1308 jaccard_1613
604224: OMIM gene: ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 2; ARPC2 Gene map locus 13q12-q13 (link from Ensembl BioMart) ENSP00000327137 ORTHOMCL4902 jaccard_3372
604225: OMIM gene: ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 3; ARPC3 (link from Ensembl BioMart) ENSP00000228825 ORTHOMCL3547 jaccard_2538
604226: OMIM gene: ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 4; ARPC4 (link from Ensembl BioMart) ENSP00000287613 ORTHOMCL4767 jaccard_3591
604227: OMIM gene: ACTIN-RELATED PROTEIN 2/3 COMPLEX, SUBUNIT 5; ARPC5 (link from Ensembl BioMart) ENSP00000294742 ORTHOMCL5248 jaccard_1316
604229: OMIM phenotype: PETERS ANOMALY Gene map locus 2p22-p21 (link from NCBI) ENSP00000064324 ORTHOMCL8895 jaccard_297
ENSP00000260630 ORTHOMCL8490 jaccard_9
ENSP00000347004 ORTHOMCL14797 jaccard_329
604230: OMIM gene: ADENOSINE DEAMINASE, tRNA-SPECIFIC, 1; ADAT1 Gene map locus 16q22.2-q22.3 (link from Ensembl BioMart) ENSP00000310015 ORTHOMCL11498 jaccard_787
604232: OMIM phenotype: LEBER CONGENITAL AMAUROSIS, TYPE III Gene map locus 14q23.3 (link from NCBI) ENSP00000267502 ORTHOMCL122 jaccard_21
604233: OMIM phenotype: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+ GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, INCLUDED Gene map locus 19q13.1, 5q31.1-q33.1, 2q24, 2q23-q24.3 (link from NCBI) ENSP00000354651 ORTHOMCL11889 jaccard_32
ENSP00000262631 ORTHOMCL7138 jaccard_901
ENSP00000349000 ORTHOMCL24202 jaccard_32
ENSP00000303540 ORTHOMCL251 jaccard_70
604234: OMIM gene: INTEGRIN, BETA-LIKE 1; ITGBL1 Gene map locus 13q33 (link from Ensembl BioMart) ENSP00000348127 ORTHOMCL16517 jaccard_5
604235: OMIM gene: SOLUTE CARRIER FAMILY 7, MEMBER 8; SLC7A8 Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000320378 ORTHOMCL6373 jaccard_107
604237: OMIM gene: CYTOKINE RECEPTOR-LIKE FACTOR 1; CRLF1 Gene map locus 19p12 (link from Ensembl BioMart) ENSP00000007403 ORTHOMCL12630 jaccard_380
604238: OMIM gene: SNAIL, DROSOPHILA, HOMOLOG OF, 1; SNAI1 Gene map locus 20q13.1 (link from Ensembl BioMart) ENSP00000244050 ORTHOMCL20043
604240: OMIM gene: T-CELL LEUKEMIA, HOMEOBOX 2; TLX2 Gene map locus 2p13.1-p12 (link from Ensembl BioMart) ENSP00000233638 ORTHOMCL14677 jaccard_4777
604242: OMIM gene: RING FINGER PROTEIN 6; RNF6 Gene map locus 13q12.11 (link from Ensembl BioMart) ENSP00000342121 ORTHOMCL30 jaccard_1391
ENSP00000344073
ENSP00000312908 ORTHOMCL30 jaccard_1391
604243: OMIM gene: G ANTIGEN 1; GAGE1 (link from Ensembl BioMart) ENSP00000347280 ORTHOMCL1255 jaccard_1764
604249: OMIM gene: RETICULON 3; RTN3 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000346492 ORTHOMCL18266 jaccard_369
ENSP00000348279 ORTHOMCL537 jaccard_369
ENSP00000344106 ORTHOMCL12223 jaccard_6888
ENSP00000340903 jaccard_369
604250: OMIM phenotype: HEMOCHROMATOSIS, TYPE 3; HFE3 Gene map locus 7q22 (link from NCBI) ENSP00000223051 ORTHOMCL9011 jaccard_590
604251: OMIM gene: CALCINEURIN-BINDING PROTEIN 1 (link from Ensembl BioMart) ENSP00000263119 ORTHOMCL9268
604252: OMIM gene: BETA-SITE AMYLOID BETA A4 PRECURSOR PROTEIN-CLEAVING ENZYME 1; BACE1 Gene map locus 11q23.3 (link from Ensembl BioMart) ENSP00000318585 ORTHOMCL14445 jaccard_82
604253: OMIM gene: CASEIN KINASE I, GAMMA-3; CSNK1G3 Gene map locus 5q23 (link from Ensembl BioMart) ENSP00000354942 ORTHOMCL399 jaccard_65
ENSP00000334735 ORTHOMCL399 jaccard_65
604256: OMIM gene: BASIC HELIX-LOOP-HELIX DOMAIN-CONTAINING PROTEIN, CLASS B, 2; BHLHB2 Gene map locus 3p26 (link from Ensembl BioMart) ENSP00000256495 ORTHOMCL17014 jaccard_264