Human disease genes 603545-603668

603429-603544 --- 603672-603787

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
603545: OMIM phenotype: ENLARGED VESTIBULAR AQUEDUCT SYNDROME Gene map locus 7q31 (link from NCBI) ENSP00000265715 ORTHOMCL114 jaccard_193
603547: OMIM gene: METHYL-CpG-BINDING DOMAIN PROTEIN 2; MBD2 Gene map locus 18q21 (link from Ensembl BioMart) ENSP00000256429 ORTHOMCL9767 jaccard_1616
603548: OMIM gene: CDP-DIACYLGLYCEROL SYNTHASE 1; CDS1 Gene map locus 4q21 (link from Ensembl BioMart) ENSP00000295887 ORTHOMCL860 jaccard_1429
603549: OMIM gene: CDP-DIACYLGLYCEROL SYNTHASE 2; CDS2 Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000217268 ORTHOMCL860 jaccard_1429
603550: OMIM gene: EYES ABSENT 4; EYA4 Gene map locus 6q23 (link from Ensembl BioMart) ENSP00000347434 ORTHOMCL3102 jaccard_560
ENSP00000347294 ORTHOMCL3102 jaccard_560
ENSP00000350942 ORTHOMCL3102 jaccard_560
ENSP00000351322 ORTHOMCL3102 jaccard_560
603551: OMIM gene: HYALURONOGLUCOSAMINIDASE 2; HYAL2 Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000350387 ORTHOMCL6014 jaccard_670
603552: OMIM phenotype: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 Gene map locus 6q24 (link from NCBI) ENSP00000336904 ORTHOMCL13134 jaccard_145
603553: OMIM phenotype: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Gene map locus 10q22 (link from NCBI) ENSP00000316746 ORTHOMCL6204 jaccard_577
603554: OMIM phenotype: OMENN SYNDROME Gene map locus 11p13, 11p13, 10p (link from NCBI) ENSP00000299440 ORTHOMCL10965 jaccard_7301
ENSP00000298913 ORTHOMCL9598 jaccard_1972
ENSP00000308620 ORTHOMCL10983 jaccard_6981
ENSP00000350349 ORTHOMCL9598 jaccard_1972
603555: OMIM gene: SUPPRESSOR OF TY 4, S. CEREVISIAE, HOMOLOG OF, 1; SUPT4H1 (link from Ensembl BioMart) ENSP00000225504 ORTHOMCL4339 jaccard_3418
603557: OMIM gene: MYOTUBULARIN-RELATED PROTEIN 2; MTMR2 Gene map locus 11q22 (link from Ensembl BioMart) ENSP00000345752 ORTHOMCL1691 jaccard_221
ENSP00000343737 ORTHOMCL1691 jaccard_221
603558: OMIM gene: MYOTUBULARIN-RELATED PROTEIN 3; MTMR3 Gene map locus 22q12 (link from Ensembl BioMart) ENSP00000318070 ORTHOMCL2666 jaccard_1592
ENSP00000307271 ORTHOMCL2666 jaccard_1592
603559: OMIM gene: MYOTUBULARIN-RELATED PROTEIN 4; MTMR4 Gene map locus Chr.17 (link from Ensembl BioMart) ENSP00000325285 ORTHOMCL6762 jaccard_1592
603560: OMIM gene: SET-BINDING FACTOR 1; SBF1 Gene map locus 22qter (link from Ensembl BioMart) ENSP00000252027 ORTHOMCL1917 jaccard_2762
ENSP00000336522 ORTHOMCL1917 jaccard_2762
603561: OMIM gene: MYOTUBULARIN-RELATED PROTEIN 6; MTMR6 Gene map locus 13q12 (link from Ensembl BioMart) ENSP00000266939 ORTHOMCL1443 jaccard_221
603562: OMIM gene: MYOTUBULARIN-RELATED PROTEIN 7; MTMR7 Gene map locus 8p22 (link from Ensembl BioMart) ENSP00000180173 ORTHOMCL1443 jaccard_221
603564: OMIM gene: DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 2, REGULATORY SUBUNIT; DPM2 (link from Ensembl BioMart) ENSP00000322181 ORTHOMCL16216 jaccard_9639
603566: OMIM gene: PROTEIN INHIBITOR OF ACTIVATED STAT1; PIAS1 Gene map locus 15q22 (link from Ensembl BioMart) ENSP00000249636 ORTHOMCL261 jaccard_432
603567: OMIM gene: PROTEIN INHIBITOR OF ACTIVATED STAT2; PIAS2 PIASX-BETA, INCLUDED (link from Ensembl BioMart) ENSP00000317163 ORTHOMCL24745 jaccard_432
ENSP00000262161 ORTHOMCL4073 jaccard_432
603570: OMIM gene: VANIN 1; VNN1 Gene map locus 6q23-q24 (link from Ensembl BioMart) ENSP00000230043 ORTHOMCL3653 jaccard_2036
603571: OMIM gene: VANIN 2; VNN2 Gene map locus 6q23-q24 (link from Ensembl BioMart) ENSP00000338251 ORTHOMCL24350 jaccard_2036
ENSP00000322276 ORTHOMCL24350 jaccard_2036
603573: OMIM gene: METHYL-CpG-BINDING DOMAIN PROTEIN 3; MBD3 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000156825 ORTHOMCL8684 jaccard_1616
603574: OMIM gene: METHYL-CpG-BINDING DOMAIN PROTEIN 4; MBD4 Gene map locus 3q21-q22 (link from Ensembl BioMart) ENSP00000249910 ORTHOMCL9839 jaccard_12956
603575: OMIM gene: NONMETASTATIC CELLS 5, PROTEIN EXPRESSED IN; NME5 Gene map locus 5q23-q31 (link from Ensembl BioMart) ENSP00000265191 ORTHOMCL11570 jaccard_408
603576: OMIM gene: TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 1; TRPM1 Gene map locus 15q13-q14 (link from Ensembl BioMart) ENSP00000256552 ORTHOMCL224 jaccard_183
603577: OMIM gene: NUCLEOLAR PROTEIN 4; NOL4 (link from Ensembl BioMart) ENSP00000261592 ORTHOMCL3045 jaccard_1938
603578: OMIM gene: OVIDUCTAL GLYCOPROTEIN 1; OVGP1 (link from Ensembl BioMart) ENSP00000256576 ORTHOMCL24539 jaccard_201
603579: OMIM gene: SUDD, ASPERGILLUS NIDULANS, HOMOLOG OF; SUDD Gene map locus 18q11.2 (link from Ensembl BioMart) ENSP00000341874 ORTHOMCL10246 jaccard_1020
603580: OMIM gene: PROTOCADHERIN 8; PCDH8 Gene map locus 13q14.3 (link from Ensembl BioMart) ENSP00000258598 ORTHOMCL10012 jaccard_14
ENSP00000341350 ORTHOMCL10012 jaccard_14
603581: OMIM gene: PROTOCADHERIN 9; PCDH9 Gene map locus 13q21.1 (link from Ensembl BioMart) ENSP00000332060 ORTHOMCL1040 jaccard_14
ENSP00000350679 ORTHOMCL1040 jaccard_14
603582: OMIM gene: TOPOISOMERASE, DNA, III, BETA; TOP3B Gene map locus 22q11 (link from Ensembl BioMart) ENSP00000349705 ORTHOMCL5561 jaccard_1761
603584: OMIM gene: MAP KINASE-ACTIVATING DEATH DOMAIN; MADD Gene map locus 11p11.2 (link from Ensembl BioMart) ENSP00000343902 ORTHOMCL731 jaccard_596
ENSP00000304505 ORTHOMCL731 jaccard_596
ENSP00000310933 ORTHOMCL731 jaccard_596
603590: OMIM gene: ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE Gene map locus 22q12.3-q13.1 (link from Ensembl BioMart) ENSP00000347088 ORTHOMCL9207 jaccard_2660
603591: OMIM gene: UBIQUITIN-SPECIFIC PROTEASE 13; USP13 Gene map locus 3q26.2-q26.3 (link from Ensembl BioMart) ENSP00000263966 ORTHOMCL2547 jaccard_1397
603593: OMIM gene: SOLUTE CARRIER FAMILY 7, MEMBER 7; SLC7A7 Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000285850 ORTHOMCL6424 jaccard_107
603594: OMIM gene: TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 4; TNFSF4 Gene map locus 1q25 (link from Ensembl BioMart) ENSP00000281834 ORTHOMCL19708 jaccard_12834
603597: OMIM gene: SUPPRESSOR OF CYTOKINE SIGNALING 1; SOCS1 Gene map locus 16p13.2 (link from Ensembl BioMart) ENSP00000329418 ORTHOMCL15715 jaccard_1078
603598: OMIM gene: TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 10; TNFSF10 Gene map locus 3q26 (link from Ensembl BioMart) ENSP00000241261 ORTHOMCL12053 jaccard_950
603599: OMIM gene: CASP8- AND FADD-LIKE APOPTOSIS REGULATOR; CFLAR (link from Ensembl BioMart) ENSP00000312455 ORTHOMCL2022 jaccard_215
603601: OMIM gene: PHOSPHATIDYLINOSITOL 3-KINASE, CLASS 2, ALPHA; PIK3C2A (link from Ensembl BioMart) ENSP00000265970 ORTHOMCL1820 jaccard_330
603602: OMIM gene: PHOSPHOLIPASE A2, GROUP IVC; PLA2G4C Gene map locus Chr.19 (link from Ensembl BioMart) ENSP00000346228 ORTHOMCL7030 jaccard_1611
603603: OMIM gene: PHOSPHOLIPASE A2, GROUP X; PLA2G10 Gene map locus 16p13.1-p12 (link from Ensembl BioMart) ENSP00000261659 ORTHOMCL17246 jaccard_743
603604: OMIM gene: PHOSPHOLIPASE A2, GROUP VI; PLA2G6 (link from Ensembl BioMart) ENSP00000335149 ORTHOMCL22288 jaccard_1636
ENSP00000333142 ORTHOMCL2611 jaccard_1636
603605: OMIM gene: SMALL INDUCIBLE CYTOKINE SUBFAMILY E, MEMBER 1; SCYE1 (link from Ensembl BioMart) ENSP00000350699 ORTHOMCL3295 jaccard_576
603606: OMIM gene: RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 4; RPS6KA4 (link from Ensembl BioMart) ENSP00000333896 jaccard_29
ENSP00000294261 ORTHOMCL24664 jaccard_29
603607: OMIM gene: RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 5; RPS6KA5 Gene map locus 14q31-q32 (link from Ensembl BioMart) ENSP00000261991 ORTHOMCL5640 jaccard_29
603608: OMIM gene: CARBONYL REDUCTASE 3; CBR3 Gene map locus 21q22.2 (link from Ensembl BioMart) ENSP00000290354 ORTHOMCL2991 jaccard_21
603609: OMIM gene: FUCOSE-1-PHOSPHATE GUANYLYLTRANSFERASE; FPGT (link from Ensembl BioMart) ENSP00000263417 ORTHOMCL10740 jaccard_7414
603610: OMIM gene: UNC5, C. ELEGANS, HOMOLOG OF, C; UNC5C Gene map locus 4q21-q23 (link from Ensembl BioMart) ENSP00000328673 ORTHOMCL2389 jaccard_1322
603611: OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10A; TNFRSF10A Gene map locus 8p21 (link from Ensembl BioMart) ENSP00000221132 ORTHOMCL5349 jaccard_691
603612: OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10B; TNFRSF10B Gene map locus 8p22-p21 (link from Ensembl BioMart) ENSP00000317859 ORTHOMCL5349 jaccard_691
ENSP00000276431 ORTHOMCL5349 jaccard_691
603613: OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10C; TNFRSF10C Gene map locus 8p22-p21 (link from Ensembl BioMart) ENSP00000349324
ENSP00000310908 ORTHOMCL5349
603614: OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 10D; TNFRSF10D Gene map locus 8p21 (link from Ensembl BioMart) ENSP00000310263 ORTHOMCL5349
603615: OMIM gene: RAD54, S. CEREVISIAE, HOMOLOG-LIKE; RAD54L Gene map locus 1p32 (link from Ensembl BioMart) ENSP00000262745 ORTHOMCL3678 jaccard_48
603616: OMIM gene: RABAPTIN 5; RABPT5 RABPT5/PDGFRB FUSION GENE, INCLUDED Gene map locus 17p13 (link from Ensembl BioMart) ENSP00000262477 ORTHOMCL5272 jaccard_3
603617: OMIM gene: SOLUTE CARRIER FAMILY 24 (SODIUM/POTASSIUM/CALCIUM EXCHANGER), MEMBER 1; SLC24A1 Gene map locus 15q22 (link from Ensembl BioMart) ENSP00000261892 ORTHOMCL1254 jaccard_312
603618: OMIM gene: CELL DIVISION CYCLE 20, S. CEREVISIAE, HOMOLOG OF; CDC20 Gene map locus 1p34.2-p33 (link from Ensembl BioMart) ENSP00000308450 ORTHOMCL3530 jaccard_17
603619: OMIM gene: FIZZY-RELATED PROTEIN, DROSOPHILA, HOMOLOG OF, 1; FZR1 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000221926 ORTHOMCL2870 jaccard_17
603620: OMIM gene: PC4- AND SFRS1-INTERACTING PROTEIN 1; PSIP1 TRANSCRIPTIONAL COACTIVATOR p52, INCLUDED (link from Ensembl BioMart) ENSP00000343971 ORTHOMCL14447
ENSP00000297635 ORTHOMCL24784 jaccard_12541
603621: OMIM gene: FORKHEAD BOX H1; FOXH1 Gene map locus 8q24.3 (link from Ensembl BioMart) ENSP00000292541 ORTHOMCL12470 jaccard_12908
603622: OMIM phenotype: DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 17; DFNA17 COCHLEOSACCULAR DEGENERATION, INCLUDED Gene map locus 22q11.2 (link from NCBI) ENSP00000216181 ORTHOMCL32 jaccard_3
603623: OMIM gene: TYROSYL-tRNA SYNTHETASE; YARS Gene map locus 1p35 (link from Ensembl BioMart) ENSP00000257116 ORTHOMCL3132 jaccard_576
603624: OMIM gene: RIBOSOMAL PROTEIN S2; RPS2 Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000341885 ORTHOMCL1458 jaccard_218
603625: OMIM gene: LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS H; LY6H Gene map locus 8q24.3 (link from Ensembl BioMart) ENSP00000342711 ORTHOMCL13854 jaccard_652
603626: OMIM gene: PROTOCADHERIN 1; PCDH1 Gene map locus 5q32-q33 (link from Ensembl BioMart) ENSP00000350122 ORTHOMCL2578 jaccard_14
ENSP00000287008 ORTHOMCL2578 jaccard_14
603627: OMIM gene: PROTOCADHERIN-GAMMA, SUBFAMILY C, MEMBER 3; PCDHGC3 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000312070 ORTHOMCL18934 jaccard_14
603628: OMIM gene: MUSCULIN; MSC (link from Ensembl BioMart) ENSP00000321445 ORTHOMCL9789 jaccard_507
603629: OMIM phenotype: DEAFNESS, AUTOSOMAL RECESSIVE 21; DFNB21 Gene map locus 11q22-q24 (link from NCBI) ENSP00000264037 ORTHOMCL7678 jaccard_5
603630: OMIM gene: RIBOSOMAL PROTEIN S5; RPS5 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000196551 ORTHOMCL2171 jaccard_1092
603631: OMIM gene: RIBOSOMAL PROTEIN S9; RPS9 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000302896 ORTHOMCL2910 jaccard_1114
603632: OMIM gene: RIBOSOMAL PROTEIN S10; RPS10 Gene map locus 6p (link from Ensembl BioMart) ENSP00000347271 jaccard_1098
ENSP00000346060 ORTHOMCL1322 jaccard_1098
603633: OMIM gene: RIBOSOMAL PROTEIN S29; RPS29 Gene map locus 14q (link from Ensembl BioMart) ENSP00000346229 jaccard_1096
ENSP00000245458 ORTHOMCL2083 jaccard_1424
603634: OMIM gene: RIBOSOMAL PROTEIN L5; RPL5 Gene map locus 1p (link from Ensembl BioMart) ENSP00000313819 ORTHOMCL3340 jaccard_1829
603636: OMIM gene: RIBOSOMAL PROTEIN L21; RPL21 Gene map locus 13q (link from Ensembl BioMart) ENSP00000346027 jaccard_212
ENSP00000351021 jaccard_212
ENSP00000346003 ORTHOMCL611 jaccard_212
603637: OMIM gene: RIBOSOMAL PROTEIN L27a; RPL27A Gene map locus 11p15 (link from Ensembl BioMart) ENSP00000346015 ORTHOMCL2095 jaccard_856
ENSP00000351424 ORTHOMCL2095 jaccard_856
603638: OMIM gene: RIBOSOMAL PROTEIN L28; RPL28 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000342787 ORTHOMCL1777 jaccard_1906
603639: OMIM gene: A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 17; ADAM17 Gene map locus 2p25 (link from Ensembl BioMart) ENSP00000309968 ORTHOMCL4069 jaccard_1608
ENSP00000339991 ORTHOMCL4069 jaccard_1608
603640: OMIM gene: A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 19; ADAM19 Gene map locus 5q32-q33 (link from Ensembl BioMart) ENSP00000257527 ORTHOMCL17654 jaccard_41
603644: OMIM gene: SCO1, S. CEREVISIAE, HOMOLOG OF; SCO1 Gene map locus 17p13-p12 (link from Ensembl BioMart) ENSP00000255390 ORTHOMCL3010 jaccard_2245
603645: OMIM gene: PET112, S. CEREVISIAE, HOMOLOG-LIKE; PET112L Gene map locus 4q27-q28 (link from Ensembl BioMart) ENSP00000263985 ORTHOMCL2912 jaccard_4160
603646: OMIM gene: CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15; COX15 Gene map locus 10q24 (link from Ensembl BioMart) ENSP00000016171 ORTHOMCL3239 jaccard_2756
ENSP00000224291 ORTHOMCL3239 jaccard_2756
603647: OMIM gene: BCS1, S. CEREVISIAE, HOMOLOG-LIKE; BCS1L Gene map locus 2q33 (link from Ensembl BioMart) ENSP00000352219 ORTHOMCL229 jaccard_594
603648: OMIM gene: CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX11; COX11 Gene map locus 17q22 (link from Ensembl BioMart) ENSP00000299335 ORTHOMCL5507 jaccard_3974
603649: OMIM phenotype: CONE-ROD DYSTROPHY 7; CORD7 Gene map locus 6cen-q14 (link from NCBI) ENSP00000264839 ORTHOMCL384 jaccard_46
603650: OMIM gene: BBS5 GENE; BBS5 Gene map locus 2q31 (link from Ensembl BioMart) ENSP00000295240 ORTHOMCL9430 jaccard_5812
603651: OMIM gene: TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 4; TRPC4 TRPC4-BETA, INCLUDED Gene map locus 13q13.1-q13.2 (link from Ensembl BioMart) ENSP00000255472 ORTHOMCL528 jaccard_337
603652: OMIM gene: TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6; TRPC6 Gene map locus 11q21-q22 (link from Ensembl BioMart) ENSP00000340913 ORTHOMCL1442 jaccard_337
603654: OMIM gene: SOLUTE CARRIER FAMILY 16 (MONOCARBOXYLIC ACID TRANSPORTER), MEMBER 7; SLC16A7 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000261187 ORTHOMCL7293 jaccard_184
603655: OMIM gene: GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-TRANSDUCING ACTIVITY POLYPEPTIDE 2; GNGT2 Gene map locus 17q21 (link from Ensembl BioMart) ENSP00000300406 ORTHOMCL12506 jaccard_350
603657: OMIM gene: VESICLE-ASSOCIATED MEMBRANE PROTEIN 3; VAMP3 (link from Ensembl BioMart) ENSP00000355244 ORTHOMCL11838 jaccard_360
ENSP00000054666 ORTHOMCL11838 jaccard_360
603658: OMIM gene: RIBOSOMAL PROTEIN S7; RPS7 Gene map locus 2p25 (link from Ensembl BioMart) ENSP00000339095 ORTHOMCL980 jaccard_836
603659: OMIM gene: GLUCAGON-LIKE PEPTIDE 2 RECEPTOR; GLP2R Gene map locus 17p13.3 (link from Ensembl BioMart) ENSP00000262441 ORTHOMCL17585 jaccard_59
603660: OMIM gene: RIBOSOMAL PROTEIN S12; RPS12 Gene map locus 6q (link from Ensembl BioMart) ENSP00000230050 ORTHOMCL1184 jaccard_401
603661: OMIM gene: RIBOSOMAL PROTEIN L17; RPL17 Gene map locus 18q (link from Ensembl BioMart) ENSP00000355102 ORTHOMCL667 jaccard_339
603662: OMIM gene: RIBOSOMAL PROTEIN L23; RPL23 Gene map locus 17q (link from Ensembl BioMart) ENSP00000346039 ORTHOMCL3613 jaccard_1496
603665: OMIM gene: STANNIOCALCIN 2; STC2 (link from Ensembl BioMart) ENSP00000265087 ORTHOMCL9046 jaccard_3626
603666: OMIM gene: SYNTAXIN 16; STX16 Gene map locus 20q13.32 (link from Ensembl BioMart) ENSP00000354445 ORTHOMCL995 jaccard_145
ENSP00000348229 ORTHOMCL995 jaccard_145
ENSP00000338281 ORTHOMCL21724 jaccard_145
ENSP00000344234
603667: OMIM gene: SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ARALAR), MEMBER 12; SLC25A12 Gene map locus 2q24 (link from Ensembl BioMart) ENSP00000263812 ORTHOMCL4394 jaccard_27
603668: OMIM gene: SPLICING FACTOR, ARGININE/SERINE-RICH, 2-INTERACTING PROTEIN; SFRS2IP Gene map locus 21q22.3 (link from Ensembl BioMart) ENSP00000351455 ORTHOMCL8104 jaccard_6705