Human disease genes 603672-603787

603545-603668 --- 603788-603896

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
603672: OMIM gene: CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2, TRANSLOCATED TO, 2; CBFA2T2 Gene map locus 20q11.2 (link from Ensembl BioMart) ENSP00000348160 ORTHOMCL3412 jaccard_745
ENSP00000352622 ORTHOMCL3412 jaccard_745
ENSP00000262653 ORTHOMCL3412 jaccard_745
603673: OMIM gene: PATCHED, DROSOPHILA, HOMOLOG OF, 2; PTCH2 Gene map locus 1p32 (link from Ensembl BioMart) ENSP00000236083 ORTHOMCL2524 jaccard_272
603674: OMIM gene: RIBOSOMAL PROTEIN S15a; RPS15A Gene map locus 16p (link from Ensembl BioMart) ENSP00000318646 ORTHOMCL1000 jaccard_848
603675: OMIM gene: RIBOSOMAL PROTEIN S16; RPS16 Gene map locus 19q (link from Ensembl BioMart) ENSP00000251453 ORTHOMCL2489 jaccard_1191
603679: OMIM gene: UBIQUITIN-CONJUGATING ENZYME E2N; UBE2N (link from Ensembl BioMart) ENSP00000316176 ORTHOMCL2018 jaccard_42
603681: OMIM gene: OTOFERLIN; OTOF Gene map locus 2p23-p22 (link from Ensembl BioMart) ENSP00000345137 ORTHOMCL921 jaccard_410
ENSP00000344521 ORTHOMCL921 jaccard_410
ENSP00000272371 ORTHOMCL921 jaccard_410
ENSP00000354472 ORTHOMCL921 jaccard_410
603682: OMIM gene: RIBOSOMAL PROTEIN S20; RPS20 Gene map locus 8q (link from Ensembl BioMart) ENSP00000009589 ORTHOMCL2008 jaccard_1519
603683: OMIM gene: RIBOSOMAL PROTEIN S23; RPS23 Gene map locus 5q (link from Ensembl BioMart) ENSP00000296674 ORTHOMCL3108 jaccard_837
603684: OMIM gene: LIPASE, ENDOTHELIAL; LIPG (link from Ensembl BioMart) ENSP00000261292 ORTHOMCL13248 jaccard_300
603685: OMIM gene: RIBOSOMAL PROTEIN S28; RPS28 Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000350525 ORTHOMCL1235 jaccard_1253
603686: OMIM gene: RIBOSOMAL PROTEIN L9; RPL9 Gene map locus 4p13 (link from Ensembl BioMart) ENSP00000347751 ORTHOMCL944 jaccard_850
ENSP00000346022 ORTHOMCL944 jaccard_850
ENSP00000330879 ORTHOMCL944 jaccard_850
ENSP00000350373 ORTHOMCL944 jaccard_850
603687: OMIM gene: ALDEHYDE DEHYDROGENASE 1 FAMILY, MEMBER A2; ALDH1A2 Gene map locus Chr.15 (link from Ensembl BioMart) ENSP00000309623 jaccard_88
ENSP00000249750 ORTHOMCL17645 jaccard_88
603689: OMIM phenotype: HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE; HMERF Gene map locus 2q24.3 (link from NCBI) ENSP00000352154 ORTHOMCL56 jaccard_2
ENSP00000340554 ORTHOMCL56 jaccard_2
ENSP00000348444
ENSP00000354117 ORTHOMCL56 jaccard_2
ENSP00000286104 ORTHOMCL56 jaccard_2
603690: OMIM gene: SOLUTE CARRIER FAMILY 33 (ACETYL-CoA TRANSPORTER), MEMBER 1; SLC33A1 Gene map locus Chr.3 (link from Ensembl BioMart) ENSP00000352456 ORTHOMCL2206 jaccard_1685
603691: OMIM gene: GALANIN RECEPTOR 2; GALR2 Gene map locus 17q25.3 (link from Ensembl BioMart) ENSP00000329684 ORTHOMCL2217 jaccard_6
603692: OMIM gene: GALANIN RECEPTOR 3; GALR3 Gene map locus 22q12.2-q13.1 (link from Ensembl BioMart) ENSP00000249041 ORTHOMCL20319 jaccard_6
603693: OMIM gene: ZINC FINGER PROTEIN, MULTITYPE 2; ZFPM2 FOG2/AML1 FUSION GENE, INCLUDED Gene map locus 8q23 (link from Ensembl BioMart) ENSP00000346051 ORTHOMCL11340 jaccard_8287
603695: OMIM gene: GUANYLATE CYCLASE 1, SOLUBLE, BETA-2; GUCY1B2 Gene map locus 13q14.3 (link from Ensembl BioMart) ENSP00000242850 ORTHOMCL3066 jaccard_1000
603696: OMIM gene: SEPTIN 4; SEPT4 Gene map locus 17q23 (link from Ensembl BioMart) ENSP00000321071 ORTHOMCL1478 jaccard_177
ENSP00000321674 ORTHOMCL1478 jaccard_177
603697: OMIM gene: ARACHIDONATE 15-LIPOXYGENASE, SECOND TYPE; ALOX15B (link from Ensembl BioMart) ENSP00000344337 ORTHOMCL887 jaccard_693
ENSP00000316970 ORTHOMCL887 jaccard_693
603698: OMIM gene: GOLGI-SPECIFIC BREFELDIN-A RESISTANCE FACTOR 1; GBF1 Gene map locus 10q24 (link from Ensembl BioMart) ENSP00000286983 ORTHOMCL1988 jaccard_611
603699: OMIM gene: WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 11; WNT11 Gene map locus 11q13.5 (link from Ensembl BioMart) ENSP00000325526 ORTHOMCL12172 jaccard_175
603700: OMIM gene: ARACHIDONATE 5-LIPOXYGENASE-ACTIVATING PROTEIN; ALOX5AP Gene map locus 13q12 (link from Ensembl BioMart) ENSP00000255317 ORTHOMCL14984 jaccard_2114
603701: OMIM gene: RIBOSOMAL PROTEIN S26; RPS26 Gene map locus 12q (link from Ensembl BioMart) ENSP00000348580 ORTHOMCL1343 jaccard_741
ENSP00000348849 ORTHOMCL1343 jaccard_741
603702: OMIM gene: RIBOSOMAL PROTEIN S27; RPS27 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000252325 ORTHOMCL1673 jaccard_1318
ENSP00000314461 ORTHOMCL1673 jaccard_1318
603703: OMIM gene: RIBOSOMAL PROTEIN L6; RPL6 Gene map locus 12q (link from Ensembl BioMart) ENSP00000202773 ORTHOMCL1366 jaccard_1772
603704: OMIM gene: RIBOSOMAL PROTEIN L26; RPL26 Gene map locus 17p (link from Ensembl BioMart) ENSP00000351505 jaccard_1120
ENSP00000293842 ORTHOMCL1519 jaccard_1120
603705: OMIM gene: ANGIOPOIETIN 4; ANGPT4 Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000262924 ORTHOMCL17854 jaccard_135
603706: OMIM gene: SEMAPHORIN 4F; SEMA4F Gene map locus 2p13 (link from Ensembl BioMart) ENSP00000350547 ORTHOMCL14189 jaccard_106
603707: OMIM gene: MOLYBDENUM COFACTOR SYNTHESIS 1; MOCS1 MOCS1A, INCLUDED Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000346751 ORTHOMCL1904 jaccard_2173
ENSP00000344794 ORTHOMCL1904 jaccard_2173
ENSP00000309843 ORTHOMCL1904 jaccard_2173
603708: OMIM gene: MOLYBDENUM COFACTOR SYNTHESIS 2; MOCS2 Gene map locus 5q11 (link from Ensembl BioMart) ENSP00000339580 ORTHOMCL7439 jaccard_6471
ENSP00000355160 ORTHOMCL11398 jaccard_6278
603709: OMIM gene: A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 22; ADAM22 Gene map locus 7q21 (link from Ensembl BioMart) ENSP00000265727 ORTHOMCL12590 jaccard_41
ENSP00000315900 ORTHOMCL12590 jaccard_41
603710: OMIM gene: A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 23; ADAM23 Gene map locus 2q33 (link from Ensembl BioMart) ENSP00000264377 ORTHOMCL5844 jaccard_41
603711: OMIM gene: OXYSTEROL 7-ALPHA-HYDROXYLASE 1; CYP7B1 Gene map locus 8q21.3 (link from Ensembl BioMart) ENSP00000310721 ORTHOMCL13453
603712: OMIM gene: A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 20; ADAM20 Gene map locus 14q24.1 (link from Ensembl BioMart) ENSP00000256389 jaccard_41
603713: OMIM gene: A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 21; ADAM21 Gene map locus 14q24.1 (link from Ensembl BioMart) ENSP00000267499 ORTHOMCL21301 jaccard_41
603714: OMIM gene: SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 3; SIX3 Gene map locus 2p21 (link from Ensembl BioMart) ENSP00000260653 ORTHOMCL3865 jaccard_791
603715: OMIM gene: GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, 1; GCM1 (link from Ensembl BioMart) ENSP00000259803 ORTHOMCL22306 jaccard_3836
603716: OMIM gene: GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, 2; GCM2 Gene map locus 6p24.2 (link from Ensembl BioMart) ENSP00000265009 ORTHOMCL7760 jaccard_3836
603717: OMIM gene: ATPase, H+ TRANSPORTING, LYSOSOMAL, 21 KD, V0 SUBUNIT C-PRIME, PRIME; ATP6V0B Gene map locus 1p32.3 (link from Ensembl BioMart) ENSP00000236067 ORTHOMCL3192 jaccard_582
603718: OMIM gene: CLAUDIN 1; CLDN1 Gene map locus 3q28-q29 (link from Ensembl BioMart) ENSP00000295522 ORTHOMCL20659 jaccard_113
603719: OMIM gene: BUDDING UNINHIBITED BY BENZIMIDAZOLES 3, S. CEREVISIAE, HOMOLOG OF; BUB3 Gene map locus 10q24-q26 (link from Ensembl BioMart) ENSP00000284670 ORTHOMCL4957 jaccard_1141
603720: OMIM phenotype: DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16 Gene map locus 15q15 (link from NCBI) ENSP00000299992 ORTHOMCL16713 jaccard_11646
603721: OMIM gene: UBIQUITIN-CONJUGATING ENZYME E2L 3; UBE2L3 Gene map locus 22q11.2-q13.1 (link from Ensembl BioMart) ENSP00000344259 ORTHOMCL10158 jaccard_42
603722: OMIM gene: INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE COMPLEX-ASSOCIATED PROTEIN; IKBKAP Gene map locus 9q31 (link from Ensembl BioMart) ENSP00000262535 ORTHOMCL4263 jaccard_3325
603725: OMIM gene: FIBROBLAST GROWTH FACTOR 17; FGF17 (link from Ensembl BioMart) ENSP00000289823 ORTHOMCL11424 jaccard_176
ENSP00000352414 ORTHOMCL11424 jaccard_176
603726: OMIM gene: FIBROBLAST GROWTH FACTOR 18; FGF18 Gene map locus 5q34 (link from Ensembl BioMart) ENSP00000274625 ORTHOMCL9972 jaccard_176
603727: OMIM gene: GLUTAMINYL-tRNA SYNTHETASE; QARS Gene map locus Chr.3 (link from Ensembl BioMart) ENSP00000307567 ORTHOMCL5625 jaccard_960
603728: OMIM gene: NUMB, DROSOPHILA, HOMOLOG OF; NUMB Gene map locus 14q24.3 (link from Ensembl BioMart) ENSP00000352563 ORTHOMCL1198 jaccard_722
ENSP00000348644 ORTHOMCL1198 jaccard_722
ENSP00000347169 ORTHOMCL1198 jaccard_722
603729: OMIM gene: SPHINGOSINE-1-PHOSPHATE LYASE 1; SGPL1 Gene map locus 10q21 (link from Ensembl BioMart) ENSP00000299297 ORTHOMCL2751 jaccard_1577
603730: OMIM gene: SPHINGOSINE KINASE 1; SPHK1 Gene map locus 17q25.2 (link from Ensembl BioMart) ENSP00000313681 ORTHOMCL799 jaccard_1015
603731: OMIM gene: CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 8; CNOT8 (link from Ensembl BioMart) ENSP00000285896 ORTHOMCL688 jaccard_869
603732: OMIM gene: CRYPTOCHROME 2; CRY2 Gene map locus Chr.11 (link from Ensembl BioMart) ENSP00000263762 ORTHOMCL1432 jaccard_689
603733: OMIM gene: PROSTATE CANCER OVEREXPRESSED GENE 1; POV1 Gene map locus 11p11.2-p11.1 (link from Ensembl BioMart) ENSP00000278426 ORTHOMCL2779 jaccard_1960
603734: OMIM gene: INTERFERON REGULATORY FACTOR 3; IRF3 Gene map locus 19q13.3-q13.4 (link from Ensembl BioMart) ENSP00000310127 ORTHOMCL24476 jaccard_605
603735: OMIM gene: AMINE OXIDASE, COPPER-CONTAINING, 3; AOC3 Gene map locus 17q21 (link from Ensembl BioMart) ENSP00000312326 ORTHOMCL20529 jaccard_1460
603739: OMIM gene: BASIC TRANSCRIPTION FACTOR 3-LIKE 3; BTF3L3 (link from Ensembl BioMart) ENSP00000336233 jaccard_660
603741: OMIM gene: ARACHIDONATE 12-LIPOXYGENASE, R TYPE; ALOX12B Gene map locus 17p13.1 (link from Ensembl BioMart) ENSP00000315167 ORTHOMCL15954 jaccard_693
603742: OMIM gene: SLIT, DROSOPHILA, HOMOLOG OF, 1; SLIT1 (link from Ensembl BioMart) ENSP00000266058 ORTHOMCL1102 jaccard_7
603743: OMIM gene: APOLIPOPROTEIN L-I; APOL1 Gene map locus 22q12.3 (link from Ensembl BioMart) ENSP00000216178 ORTHOMCL679 jaccard_832
ENSP00000317674 ORTHOMCL679 jaccard_832
603745: OMIM gene: SLIT, DROSOPHILA, HOMOLOG OF, 3; SLIT3 Gene map locus 5q35 (link from Ensembl BioMart) ENSP00000332164 ORTHOMCL1102 jaccard_7
603746: OMIM gene: SLIT, DROSOPHILA, HOMOLOG OF, 2; SLIT2 Gene map locus 4p15.2 (link from Ensembl BioMart) ENSP00000273739 ORTHOMCL1102 jaccard_7
603747: OMIM gene: TUMOR PROTEIN D52-LIKE 2; TPD52L2 Gene map locus 20q13.2-q13.3 (link from Ensembl BioMart) ENSP00000343547 ORTHOMCL734 jaccard_656
ENSP00000344647 ORTHOMCL16773 jaccard_656
ENSP00000217121 ORTHOMCL16773 jaccard_656
ENSP00000340006 ORTHOMCL13353 jaccard_656
ENSP00000351350 ORTHOMCL13353 jaccard_656
ENSP00000343554 ORTHOMCL734 jaccard_656
603749: OMIM gene: TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 2; TRPM2 Gene map locus 21q22.3 (link from Ensembl BioMart) ENSP00000300482 ORTHOMCL1611 jaccard_183
603750: OMIM gene: AQUAPORIN 8; AQP8 Gene map locus 16p12-p11.2 (link from Ensembl BioMart) ENSP00000219660 ORTHOMCL2175 jaccard_122
603751: OMIM gene: ENDOTHELIAL DIFFERENTIATION GENE 6; EDG6 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000246115 ORTHOMCL5908 jaccard_19
603752: OMIM gene: SOLUTE CARRIER FAMILY 7, MEMBER 4; SLC7A4 Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000215750 ORTHOMCL466 jaccard_107
603753: OMIM gene: UBIQUITINATION FACTOR E4A; UBE4A Gene map locus Chr.11 (link from Ensembl BioMart) ENSP00000252108 ORTHOMCL9501 jaccard_1374
603754: OMIM gene: KINESIN FAMILY MEMBER 3B; KIF3B Gene map locus Chr.20 (link from Ensembl BioMart) ENSP00000262652 ORTHOMCL1454 jaccard_38
603755: OMIM gene: MADH-INTERACTING PROTEIN; MADHIP (link from Ensembl BioMart) ENSP00000349737 ORTHOMCL1773 jaccard_3077
ENSP00000355358 ORTHOMCL1773 jaccard_3077
ENSP00000287727 ORTHOMCL1773 jaccard_3077
603756: OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 2; ABCG2 Gene map locus 4q22 (link from Ensembl BioMart) ENSP00000237612 ORTHOMCL131 jaccard_105
603757: OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 18; CCL18 Gene map locus 17q11.2 (link from Ensembl BioMart) ENSP00000004921 jaccard_248
603758: OMIM gene: GLUTATHIONE S-TRANSFERASE, ZETA-1; GSTZ1 Gene map locus 14q24.3 (link from Ensembl BioMart) ENSP00000354959 ORTHOMCL20455 jaccard_110
ENSP00000216465 ORTHOMCL1602 jaccard_110
ENSP00000314404
603759: OMIM gene: LIM HOMEOBOX GENE 2; LHX2 Gene map locus 9q33-q34.1 (link from Ensembl BioMart) ENSP00000223522 ORTHOMCL7055 jaccard_223
603760: OMIM gene: HYDROXYUREA-SENSITIVE 1, S. POMBE, HOMOLOG OF; HUS1 Gene map locus 7p13-p12 (link from Ensembl BioMart) ENSP00000258774 ORTHOMCL6781 jaccard_3643
603761: OMIM gene: RAD9, S. POMBE, HOMOLOG OF, A; RAD9A Gene map locus 11q13.1-q13.2 (link from Ensembl BioMart) ENSP00000311360 ORTHOMCL3914 jaccard_2277
603762: OMIM gene: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE-ASSOCIATED PROTEIN 2; PRPSAP2 Gene map locus 17p12-p11.2 (link from Ensembl BioMart) ENSP00000268835 ORTHOMCL3426 jaccard_452
603763: OMIM gene: KINESIN-LIKE 2; KNSL2 Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000244365 ORTHOMCL1702 jaccard_38
603764: OMIM gene: CYCLIN-DEPENDENT KINASE 5, REGULATORY SUBUNIT 2; CDK5R2 Gene map locus 2q35 (link from Ensembl BioMart) ENSP00000304250 ORTHOMCL10665 jaccard_2832
603765: OMIM gene: SYNTAXIN 10; STX10 (link from Ensembl BioMart) ENSP00000242770 jaccard_999
603766: OMIM gene: MITOCHONDRIAL TRANSLATIONAL INITIATION FACTOR 2; MTIF2 Gene map locus 2p16-p14 (link from Ensembl BioMart) ENSP00000263629 ORTHOMCL3559 jaccard_2315
603767: OMIM gene: KALLIKREIN 4; KLK4 Gene map locus 19q13.3-q13.4 (link from Ensembl BioMart) ENSP00000326159 ORTHOMCL20087 jaccard_10
603768: OMIM gene: PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 12B; PPP1R12B Gene map locus 1q32.1 (link from Ensembl BioMart) ENSP00000354430 ORTHOMCL1287 jaccard_11
ENSP00000290419 ORTHOMCL9168
603769: OMIM gene: T-CELL LYMPHOMA/LEUKEMIA 1B; TCL1B Gene map locus 14q32.1 (link from Ensembl BioMart) ENSP00000343223 ORTHOMCL9121 jaccard_6185
603770: OMIM gene: PROTEIN PHOSPHATASE, MAGNESIUM-DEPENDENT, 1B; PPM1B Gene map locus 2p21 (link from Ensembl BioMart) ENSP00000326089
ENSP00000282412 ORTHOMCL2288 jaccard_86
ENSP00000325920 ORTHOMCL2288 jaccard_86
603772: OMIM gene: DYNEIN, CYTOPLASMIC 1, INTERMEDIATE CHAIN 1; DYNC1I1 Gene map locus 7q21.3-q22.1 (link from Ensembl BioMart) ENSP00000320130 ORTHOMCL208 jaccard_239
603773: OMIM gene: CYTOCHROME c OXIDASE, SUBUNIT Va; COX5A Gene map locus 15q25 (link from Ensembl BioMart) ENSP00000317780 ORTHOMCL5230 jaccard_3796
603774: OMIM gene: CYTOCHROME c OXIDASE, SUBUNIT VIIc; COX7C Gene map locus 5q14 (link from Ensembl BioMart) ENSP00000247655 ORTHOMCL5026 jaccard_3912
603775: OMIM gene: CYCLIN E2; CCNE2 (link from Ensembl BioMart) ENSP00000309181 ORTHOMCL16861 jaccard_1890
603776: OMIM phenotype: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 Gene map locus 1p34.1-p32 (link from NCBI) ENSP00000303208 ORTHOMCL7840 jaccard_4816
ENSP00000348266
603777: OMIM gene: CERBERUS 1 HOMOLOG, CYSTEINE KNOT SUPERFAMILY; CER1 Gene map locus 9p22 (link from Ensembl BioMart) ENSP00000276911 ORTHOMCL15633 jaccard_13136
603778: OMIM gene: CHROMODOMAIN PROTEIN ON Y CHROMOSOME-LIKE; CDYL Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000283009 ORTHOMCL8295 jaccard_153
ENSP00000330512 ORTHOMCL21699 jaccard_153
ENSP00000340908 ORTHOMCL21699 jaccard_153
603779: OMIM gene: SYNUCLEIN-ALPHA-INTERACTING PROTEIN; SNCAIP Gene map locus 5q23.1-q23.3 (link from Ensembl BioMart) ENSP00000261368 ORTHOMCL6245
603780: OMIM gene: RECQ PROTEIN-LIKE 4; RECQL4 Gene map locus 8q24.3 (link from Ensembl BioMart) ENSP00000301323 ORTHOMCL7681 jaccard_7355
603781: OMIM gene: RECQ PROTEIN-LIKE 5; RECQL5 Gene map locus 17q25 (link from Ensembl BioMart) ENSP00000317636 ORTHOMCL3620 jaccard_14530
ENSP00000341983 ORTHOMCL3620
603784: OMIM gene: PITUITARY TUMOR-TRANSFORMING GENE 1 PROTEIN-INTERACTING PROTEIN; PTTG1IP Gene map locus 21q22.3 (link from Ensembl BioMart) ENSP00000328325 ORTHOMCL13098 jaccard_6355
603787: OMIM gene: POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY F, MEMBER 1; KCNF1 Gene map locus 2p25 (link from Ensembl BioMart) ENSP00000295082 ORTHOMCL17152 jaccard_97