Human disease genes 601414-601543

601265-601411 --- 601544-601663

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
601414: OMIM phenotype: RETINITIS PIGMENTOSA 18; RP18 Gene map locus 1q21.2 (link from NCBI) ENSP00000315379 jaccard_3485
ENSP00000236015 ORTHOMCL3232 jaccard_3485
601415: OMIM gene: V-MYB AVIAN MYELOBLASTOSIS VIRAL ONCOGENE HOMOLOG-LIKE 2; MYBL2 Gene map locus 20q13.1 (link from Ensembl BioMart) ENSP00000217026 ORTHOMCL210 jaccard_772
601416: OMIM gene: SOLUTE CARRIER FAMILY 39 (ZINC TRANSPORTER) MEMBER 7 Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000348319 ORTHOMCL3229 jaccard_323
ENSP00000314227 ORTHOMCL3229 jaccard_323
601417: OMIM gene: 17-@BETA-HYDROXYSTEROID DEHYDROGENASE VIII; HSD17B8 Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000230236 ORTHOMCL1882 jaccard_21
601418: OMIM gene: RIBOSOME BINDING PROTEIN 1; RRBP1 Gene map locus 20p12-p11.2 (link from Ensembl BioMart) ENSP00000354045 ORTHOMCL8971 jaccard_3
601419: OMIM phenotype: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED Gene map locus 2q35 (link from NCBI) ENSP00000273074 ORTHOMCL15062 jaccard_0
ENSP00000327145 ORTHOMCL394 jaccard_541
601421: OMIM gene: LYSYL-tRNA SYNTHETASE; KARS Gene map locus 16q22.2-q22.3 (link from Ensembl BioMart) ENSP00000303043 ORTHOMCL1580 jaccard_391
601423: OMIM gene: THYMINE-DNA GLYCOSYLASE; TDG Gene map locus 12q24.1 (link from Ensembl BioMart) ENSP00000266775 ORTHOMCL3919 jaccard_3793
601426: OMIM gene: NUCLEAR RECEPTOR SUBFAMILY 2, GROUP C, MEMBER 2; NR2C2 Gene map locus 3p25 (link from Ensembl BioMart) ENSP00000320447 ORTHOMCL16972 jaccard_18
601430: OMIM gene: REGULATOR OF NONSENSE TRANSCRIPTS 1; RENT1 Gene map locus 19p13.2-p13.11 (link from Ensembl BioMart) ENSP00000262803 ORTHOMCL5327 jaccard_4058
601434: OMIM gene: S-PHASE KINASE-ASSOCIATED PROTEIN 1A; SKP1A Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000331708 jaccard_296
ENSP00000231487 ORTHOMCL314 jaccard_296
601436: OMIM gene: S-PHASE KINASE-ASSOCIATED PROTEIN 2; SKP2 Gene map locus 5p13 (link from Ensembl BioMart) ENSP00000274255 ORTHOMCL4865 jaccard_147
ENSP00000274254 ORTHOMCL24135 jaccard_147
601437: OMIM gene: Fc FRAGMENT OF IgG, RECEPTOR TRANSPORTER, ALPHA; FCGRT Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000221466 ORTHOMCL15001 jaccard_64
601439: OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; ABCC9 Gene map locus 12p12.1 (link from Ensembl BioMart) ENSP00000261202 ORTHOMCL2514 jaccard_44
ENSP00000261200 ORTHOMCL2514 jaccard_44
ENSP00000261201 ORTHOMCL2514 jaccard_44
601440: OMIM gene: DIACYLGLYCEROL KINASE, EPSILON, 64-KD; DGKE Gene map locus 17q22 (link from Ensembl BioMart) ENSP00000284061 ORTHOMCL5532 jaccard_214
601441: OMIM gene: DIACYLGLYCEROL KINASE, ZETA, 104-KD: DGKZ (link from Ensembl BioMart) ENSP00000320340 ORTHOMCL3765 jaccard_214
ENSP00000343065 ORTHOMCL3765 jaccard_214
601442: OMIM gene: COFILIN 1; CFL1 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000309629 ORTHOMCL298 jaccard_394
601443: OMIM gene: COFILIN 2; CFL2 Gene map locus Chr.14 (link from Ensembl BioMart) ENSP00000298159 ORTHOMCL298 jaccard_394
ENSP00000340635 ORTHOMCL298 jaccard_394
601444: OMIM gene: BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 1; BLOC1S1 Gene map locus 12q13-q14 (link from Ensembl BioMart) ENSP00000257899 ORTHOMCL7739 jaccard_4287
601445: OMIM gene: NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 9; NDUFB9 Gene map locus 8q13.3 (link from Ensembl BioMart) ENSP00000276689 ORTHOMCL8248 jaccard_4130
601447: OMIM gene: UBIQUITIN-SPECIFIC PROTEASE 5; USP5 Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000229268 ORTHOMCL5034 jaccard_1397
601448: OMIM gene: NUCLEAR PROTEIN, ATAXIA-TELANGIECTASIA LOCUS; NPAT Gene map locus 11q22.3 (link from Ensembl BioMart) ENSP00000278612 ORTHOMCL20579
601451: OMIM phenotype: NEVO SYNDROME Gene map locus 1p36.3-p36.2 (link from NCBI) ENSP00000196061 ORTHOMCL2445 jaccard_1784
601455: OMIM phenotype: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D; CMT4D Gene map locus 8q24.3 (link from NCBI) ENSP00000319977 ORTHOMCL15796 jaccard_424
601456: OMIM gene: MULTIMERIN 1; MMRN1 (link from Ensembl BioMart) ENSP00000264790 ORTHOMCL18049
601457: OMIM phenotype: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE Gene map locus 11p13, 11p13 (link from NCBI) ENSP00000308620 ORTHOMCL10983 jaccard_6981
ENSP00000299440 ORTHOMCL10965 jaccard_7301
601459: OMIM gene: PREPRONOCICEPTIN; PNOC NOCICEPTIN, INCLUDED Gene map locus 8p21 (link from Ensembl BioMart) ENSP00000301908 ORTHOMCL11465 jaccard_2120
601460: OMIM gene: SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 2A1; SLCO2A1 Gene map locus 3q21 (link from Ensembl BioMart) ENSP00000311291 ORTHOMCL10985 jaccard_262
601461: OMIM gene: ATONAL, DROSOPHILA, HOMOLOG OF, 1; ATOH1 Gene map locus 4q22 (link from Ensembl BioMart) ENSP00000302216 ORTHOMCL4137 jaccard_5457
601462: OMIM phenotype: MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL; SCCMS Gene map locus 17p12-p11, 17p13-p12, 2q33-q34, 2q24-q32 (link from NCBI) ENSP00000346159 ORTHOMCL254 jaccard_149
ENSP00000261008 ORTHOMCL12557 jaccard_32
ENSP00000304290 ORTHOMCL17288 jaccard_32
ENSP00000258385 ORTHOMCL16405 jaccard_32
ENSP00000261007 ORTHOMCL12557 jaccard_32
ENSP00000293780 ORTHOMCL18373 jaccard_32
601463: OMIM gene: HYALURONAN SYNTHASE 1; HAS1 Gene map locus 19q13.3-q13.4 (link from Ensembl BioMart) ENSP00000222115 ORTHOMCL13635 jaccard_2443
601464: OMIM gene: LYMPHOID NUCLEAR PROTEIN RELATED TO AF4; LAF4 LAF4/MLL FUSION GENE, INCLUDED Gene map locus 2q11.2-q12 (link from Ensembl BioMart) ENSP00000348793 ORTHOMCL4692 jaccard_7849
601465: OMIM gene: DEOXYGUANOSINE KINASE; DGUOK Gene map locus 2p13 (link from Ensembl BioMart) ENSP00000264093 ORTHOMCL10152 jaccard_1924
ENSP00000306964 jaccard_1924
601467: OMIM gene: MITOTIC ARREST-DEFICIENT 2, S. CEREVISIAE, HOMOLOG-LIKE 1; MAD2L1 Gene map locus 4q27 (link from Ensembl BioMart) ENSP00000296509 ORTHOMCL4124 jaccard_1783
601468: OMIM gene: METHIONINE ADENOSYLTRANSFERASE II, ALPHA; MAT2A Gene map locus 2p11.2 (link from Ensembl BioMart) ENSP00000303147 ORTHOMCL328 jaccard_615
601469: OMIM gene: PARATHYROID HORMONE RECEPTOR 2; PTHR2 Gene map locus 2q33 (link from Ensembl BioMart) ENSP00000272847 ORTHOMCL6914 jaccard_59
601470: OMIM gene: CHEMOKINE, CX3C MOTIF, RECEPTOR 1; CX3CR1 Gene map locus 3pter-p21 (link from Ensembl BioMart) ENSP00000351059 ORTHOMCL14673 jaccard_6
601472: OMIM phenotype: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D Gene map locus 7p15 (link from NCBI) ENSP00000265296 ORTHOMCL3368 jaccard_2959
601473: OMIM gene: ZINC FINGER PROTEIN 75A; ZNF75A Gene map locus 16pter-p11 (link from Ensembl BioMart) ENSP00000293995 ORTHOMCL18886
601475: OMIM gene: PERIODIC TRYPTOPHAN PROTEIN 2, YEAST, HOMOLOG OF; PWP2H Gene map locus 21q22.3 (link from Ensembl BioMart) ENSP00000291576 ORTHOMCL4443 jaccard_8842
601476: OMIM gene: LYSOSOMAL-ASSOCIATED MULTISPANNING MEMBRANE PROTEIN 5; LAPTM5 Gene map locus 1p34 (link from Ensembl BioMart) ENSP00000294507 ORTHOMCL13570 jaccard_2714
601478: OMIM gene: MYOSIN IA; MYO1A Gene map locus 12q13-q15 (link from Ensembl BioMart) ENSP00000300119 ORTHOMCL4250 jaccard_3
601479: OMIM gene: MYOSIN IE; MYO1E Gene map locus 15q21-q22 (link from Ensembl BioMart) ENSP00000288235 ORTHOMCL1307 jaccard_3
601480: OMIM gene: MYOSIN IF; MYO1F Gene map locus 19p13.3-p13.2 (link from Ensembl BioMart) ENSP00000344871 ORTHOMCL1307 jaccard_3
ENSP00000310957 ORTHOMCL1307 jaccard_3
601481: OMIM gene: MYOSIN X; MYO10 Gene map locus 5p15.1-p14.3 (link from Ensembl BioMart) ENSP00000274203 ORTHOMCL3344 jaccard_3
601482: OMIM gene: DOWNREGULATOR OF TRANSCRIPTION 1, TBP-BINDING; DR1 Gene map locus 1p22.1 (link from Ensembl BioMart) ENSP00000236164 ORTHOMCL3627 jaccard_540
601483: OMIM gene: PATERNALLY EXPRESSED GENE 3; PEG3 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000326581 ORTHOMCL5878 jaccard_1
601485: OMIM gene: SYNTAXIN 1B; STX1B Gene map locus 16p11.2 (link from Ensembl BioMart) ENSP00000215095 ORTHOMCL335 jaccard_145
601486: OMIM gene: DELETED IN AZOOSPERMIA-LIKE; DAZL Gene map locus 3p24 (link from Ensembl BioMart) ENSP00000250863 ORTHOMCL15555 jaccard_0
601487: OMIM gene: PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG PPARG1, INCLUDED Gene map locus 3p25 (link from Ensembl BioMart) ENSP00000287820 ORTHOMCL20085 jaccard_18
ENSP00000312472 ORTHOMCL18176 jaccard_18
601488: OMIM gene: NEUTROPHIL CYTOSOLIC FACTOR 4; NCF4 Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000248899 ORTHOMCL8968 jaccard_1052
ENSP00000337605 ORTHOMCL8968 jaccard_1052
601489: OMIM gene: INSULIN-LIKE GROWTH FACTOR-BINDING PROTEIN, ACID-LABILE SUBUNIT; IGFALS ACID-LABILE SUBUNIT, DEFICIENCY OF, INCLUDED Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000215539 ORTHOMCL4265 jaccard_7
601490: OMIM gene: NUCLEAR FACTOR ERYTHROID 2, p45 SUBUNIT; NFE2 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000312436 ORTHOMCL1628 jaccard_6536
601492: OMIM phenotype: HYALURONIDASE DEFICIENCY Gene map locus 3p21.3-p21.2 (link from NCBI) ENSP00000346068 ORTHOMCL5413 jaccard_670
ENSP00000266031 ORTHOMCL5413 jaccard_670
601494: OMIM phenotype: CARDIOMYOPATHY, DILATED, 1D; CMD1D Gene map locus 1q32 (link from NCBI) ENSP00000353535 ORTHOMCL178 jaccard_461
ENSP00000350511 ORTHOMCL178 jaccard_461
ENSP00000353175 ORTHOMCL178 jaccard_461
601495: OMIM phenotype: AGAMMAGLOBULINEMIA, NON-BRUTON TYPE, AUTOSOMAL RECESSIVE AGAMMAGLOBULINEMIA, NON-BRUTON TYPE, AUTOSOMAL DOMINANT, INCLUDED Gene map locus 22q11.21, 14q32.33, 9q34.13 (link from NCBI) ENSP00000259324 ORTHOMCL14319 jaccard_1543
ENSP00000249053
ENSP00000329312 jaccard_93
601496: OMIM gene: GDNF FAMILY RECEPTOR ALPHA-1; GFRA1 Gene map locus 10q26 (link from Ensembl BioMart) ENSP00000342808 ORTHOMCL11669 jaccard_1190
ENSP00000347591 ORTHOMCL11669 jaccard_1190
601497: OMIM gene: BCL2-ASSOCIATED ATHANOGENE 1; BAG1 Gene map locus 9p12 (link from Ensembl BioMart) ENSP00000224112 ORTHOMCL11184 jaccard_3512
601498: OMIM gene: PEROXISOME BIOGENESIS FACTOR 6; PEX6 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 4, INCLUDED Gene map locus 6p21.1 (link from Ensembl BioMart) ENSP00000303511 ORTHOMCL5380 jaccard_60
601500: OMIM gene: SMOOTHENED, DROSOPHILA, HOMOLOG OF; SMOH Gene map locus 7q31-q32 (link from Ensembl BioMart) ENSP00000249373 ORTHOMCL9467 jaccard_407
601504: OMIM gene: SEC14-LIKE 1; SEC14L1 Gene map locus 17q25.1-q25.2 (link from Ensembl BioMart) ENSP00000262775 ORTHOMCL347 jaccard_1908
601505: OMIM gene: ZINC FINGER PROTEIN 146; ZNF146 Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000301233 ORTHOMCL23591 jaccard_1
601506: OMIM gene: NEURAL PRECURSOR CELL EXPRESSED, DEVELOPMENTALLY DOWNREGULATED 5; NEDD5 Gene map locus 2q37 (link from Ensembl BioMart) ENSP00000353157 ORTHOMCL6585 jaccard_177
601507: OMIM gene: CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 3, 22-KD; CLAPS3 Gene map locus 12p13.2-p13.1 (link from Ensembl BioMart) ENSP00000325369 ORTHOMCL2535 jaccard_226
601509: OMIM gene: GAMMA-GLUTAMYL HYDROLASE; GGH (link from Ensembl BioMart) ENSP00000260118 ORTHOMCL4270 jaccard_2485
601510: OMIM gene: SREBP CLEAVAGE-ACTIVATING PROTEIN (link from Ensembl BioMart) ENSP00000265565 ORTHOMCL2249 jaccard_2614
601511: OMIM gene: SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5A; STAT5A (link from Ensembl BioMart) ENSP00000341208 ORTHOMCL952 jaccard_685
601512: OMIM gene: SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 6; STAT6 STAT6b, INCLUDED Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000300134 ORTHOMCL952 jaccard_685
601513: OMIM gene: FIBROBLAST GROWTH FACTOR 12; FGF12 Gene map locus 3q28 (link from Ensembl BioMart) ENSP00000264730 ORTHOMCL14581 jaccard_176
601514: OMIM gene: FIBROBLAST GROWTH FACTOR 11; FGF11 Gene map locus 17q21 (link from Ensembl BioMart) ENSP00000293829 ORTHOMCL9513 jaccard_176
601515: OMIM gene: FIBROBLAST GROWTH FACTOR 14; FGF14 Gene map locus 13q34 (link from Ensembl BioMart) ENSP00000331970 ORTHOMCL21387 jaccard_176
ENSP00000341755 jaccard_176
601516: OMIM gene: SPLICING FACTOR 1; SF1 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000334414 ORTHOMCL1953 jaccard_5996
ENSP00000227503 ORTHOMCL1953 jaccard_5996
601518: OMIM phenotype: PROSTATE CANCER, HEREDITARY, 1; HPC1 Gene map locus 1q25 (link from NCBI) ENSP00000258306 ORTHOMCL13215
601519: OMIM phenotype: ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F0 COMPLEX, SUBUNIT E; ATP5I (link from Ensembl BioMart) ENSP00000306003 ORTHOMCL5918 jaccard_4154
601520: OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 17; CCL17 Gene map locus 16q13 (link from Ensembl BioMart) ENSP00000219244 ORTHOMCL20190 jaccard_248
601521: OMIM gene: ENDOTHELIAL CELL-SPECIFIC MOLECULE 1; ESM1 (link from Ensembl BioMart) ENSP00000296723 ORTHOMCL14211
601522: OMIM gene: GROWTH FACTOR RECEPTOR-BOUND PROTEIN 7; GRB7 Gene map locus 17q21-q22 (link from Ensembl BioMart) ENSP00000310771 ORTHOMCL24182 jaccard_801
601523: OMIM gene: GROWTH FACTOR RECEPTOR-BOUND PROTEIN 10; GRB10 Gene map locus 7p12-p11.2 (link from Ensembl BioMart) ENSP00000349818 ORTHOMCL5372 jaccard_801
ENSP00000338543 ORTHOMCL5372 jaccard_801
601524: OMIM gene: GROWTH FACTOR RECEPTOR-BOUND PROTEIN 14; GRB14 Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000263915 ORTHOMCL18946 jaccard_801
601525: OMIM gene: CHITINASE 3-LIKE 1; CHI3L1 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000255409 ORTHOMCL20772 jaccard_201
601526: OMIM gene: CHITINASE 3-LIKE 2; CHI3L2 (link from Ensembl BioMart) ENSP00000234617 jaccard_201
601527: OMIM gene: CARTILAGE HOMEOPROTEIN 1; CART1 Gene map locus 12q21.3-q22 (link from Ensembl BioMart) ENSP00000315417 ORTHOMCL16700 jaccard_329
601528: OMIM gene: VASCULAR ENDOTHELIAL GROWTH FACTOR C; VEGFC (link from Ensembl BioMart) ENSP00000280193 ORTHOMCL16008 jaccard_5814
601529: OMIM gene: NUCLEAR RECEPTOR SUBFAMILY 2, GROUP C, MEMBER 1; NR2C1 (link from Ensembl BioMart) ENSP00000328843 jaccard_11737
ENSP00000333275 ORTHOMCL1759 jaccard_18
601531: OMIM gene: LEUKOTRIENE B4 RECEPTOR; LTB4R Gene map locus 14q11.2-q12 (link from Ensembl BioMart) ENSP00000307445 ORTHOMCL16501 jaccard_6
601532: OMIM gene: CASPASE 6, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP6 Gene map locus 4q25-q25 (link from Ensembl BioMart) ENSP00000265164 ORTHOMCL17184 jaccard_215
ENSP00000285333 jaccard_215
601533: OMIM gene: A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 2; ADAM2 Gene map locus 8p11.2 (link from Ensembl BioMart) ENSP00000265708 ORTHOMCL16374 jaccard_41
601534: OMIM gene: POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 3; KCNJ3 Gene map locus 2q24.1 (link from Ensembl BioMart) ENSP00000295101 ORTHOMCL16941 jaccard_224
601535: OMIM gene: EPHRIN A5; EFNA5 (link from Ensembl BioMart) ENSP00000328777 ORTHOMCL22468 jaccard_1648
601536: OMIM phenotype: ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABSD BOSLEY-SALIH-ALORAINY SYNDROME, INCLUDED; BSAS, INCLUDED Gene map locus 7p15.3 (link from NCBI) ENSP00000343246 ORTHOMCL5715 jaccard_14206
ENSP00000347851 ORTHOMCL15785 jaccard_9585
601538: OMIM gene: PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1 Gene map locus 5q (link from Ensembl BioMart) ENSP00000311290 ORTHOMCL6738
601539: OMIM phenotype: PEROXISOME BIOGENESIS DISORDERS; PBD (link from Ensembl BioMart) ENSP00000225873 ORTHOMCL4967 jaccard_3634
ENSP00000331106 ORTHOMCL7688 jaccard_5264
601540: OMIM gene: BROMODOMAIN-CONTAINING PROTEIN 2; BRD2 Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000309923 ORTHOMCL255 jaccard_259
601541: OMIM gene: BROMODOMAIN-CONTAINING PROTEIN 3; BRD3 Gene map locus 9q34 (link from Ensembl BioMart) ENSP00000305918 ORTHOMCL255 jaccard_259
601542: OMIM gene: PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2 Gene map locus 4q25-q26 (link from Ensembl BioMart) ENSP00000304169 ORTHOMCL6209 jaccard_329
ENSP00000347192 ORTHOMCL12530 jaccard_329
ENSP00000347004 ORTHOMCL14797 jaccard_329
601543: OMIM phenotype: DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 8; DFNA8 Gene map locus 11q22-q24 (link from NCBI) ENSP00000264037 ORTHOMCL7678 jaccard_5