Human disease genes 604258-604387

604141-604256 --- 604388-604504

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
604258: OMIM gene: DELETED IN LIVER CANCER 1; DLC1 Gene map locus 8p22-p21.3 (link from Ensembl BioMart) ENSP00000351797 ORTHOMCL7274 jaccard_746
ENSP00000276297 ORTHOMCL7274 jaccard_746
ENSP00000321034 jaccard_8053
604259: OMIM gene: PLEXIN C1; PLXNC1 Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000258526 ORTHOMCL13829 jaccard_348
604260: OMIM gene: SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 5B; STAT5B STAT5B/RARA FUSION GENE, INCLUDED Gene map locus 17q11.2 (link from Ensembl BioMart) ENSP00000293328 ORTHOMCL952 jaccard_685
604261: OMIM gene: AUTOPHAGY 5, S. CEREVISIAE, HOMOLOG OF; ATG5 Gene map locus 6q21 (link from Ensembl BioMart) ENSP00000343313 jaccard_3253
ENSP00000263322 ORTHOMCL5197 jaccard_3253
604262: OMIM gene: AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 3; APBA3 (link from Ensembl BioMart) ENSP00000315136 ORTHOMCL22373 jaccard_1150
604263: OMIM gene: PRION GENE COMPLEX, DOWNSTREAM; PRND Gene map locus 20pter-p12 (link from Ensembl BioMart) ENSP00000306900 ORTHOMCL11957 jaccard_6654
604264: OMIM gene: CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 3; CELSR3 Gene map locus 3p24.1-p21.2 (link from Ensembl BioMart) ENSP00000164024 ORTHOMCL1653 jaccard_1485
604265: OMIM gene: CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 2; CELSR2 Gene map locus 1p21 (link from Ensembl BioMart) ENSP00000271332 ORTHOMCL1653 jaccard_1485
604266: OMIM gene: EPIDERMAL GROWTH FACTOR-LIKE 3; EGFL3 Gene map locus 1p36.3 (link from Ensembl BioMart) ENSP00000294599 ORTHOMCL1708 jaccard_5
ENSP00000348982
604267: OMIM gene: EPIDERMAL GROWTH FACTOR-LIKE 4; EGFL4 Gene map locus 19q12 (link from Ensembl BioMart) ENSP00000251268 ORTHOMCL7942 jaccard_5
604268: OMIM gene: EPIDERMAL GROWTH FACTOR-LIKE 5; EGFL5 Gene map locus 9q32-q33.3 (link from Ensembl BioMart) ENSP00000223618 ORTHOMCL12716 jaccard_12379
604269: OMIM gene: FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 2; FAT2 Gene map locus 5q32-q33 (link from Ensembl BioMart) ENSP00000261800 ORTHOMCL704 jaccard_14
604270: OMIM gene: LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 4; LRP4 Gene map locus 11p12-p11.2 (link from Ensembl BioMart) ENSP00000256991 ORTHOMCL929 jaccard_5
604271: OMIM phenotype: SHORT STATURE; SS Gene map locus Ypter-p11.2, Xpter-p22.32 (link from NCBI) ENSP00000341131 ORTHOMCL18208
604272: OMIM gene: SCO2, S. CEREVISIAE, HOMOLOG OF; SCO2 Gene map locus 22q13 (link from Ensembl BioMart) ENSP00000252785 ORTHOMCL3010 jaccard_2245
604273: OMIM phenotype: ATPAF2 DEFICIENCY Gene map locus 17p11.2 (link from NCBI) ENSP00000304017 ORTHOMCL7106 jaccard_5082
604274: OMIM gene: KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY A, MEMBER 1; KLRA1 Gene map locus 12p13-p12 (link from Ensembl BioMart) ENSP00000023165 ORTHOMCL582 jaccard_23
604275: OMIM gene: CATENIN, DELTA-2; CTNND2 Gene map locus 5p15.2 (link from Ensembl BioMart) ENSP00000307134 ORTHOMCL1404 jaccard_379
604276: OMIM gene: PLAKOPHILIN 4; PKP4 Gene map locus 2q23-q31 (link from Ensembl BioMart) ENSP00000336858 ORTHOMCL1404 jaccard_379
604277: OMIM gene: SPG4 GENE; SPG4 Gene map locus 2p22-p21 (link from Ensembl BioMart) ENSP00000340817 ORTHOMCL1100 jaccard_60
ENSP00000320885 ORTHOMCL1100 jaccard_60
604278: OMIM phenotype: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES Gene map locus 4q21 (link from NCBI) ENSP00000344272 ORTHOMCL842 jaccard_158
ENSP00000264485 ORTHOMCL842 jaccard_158
604279: OMIM gene: JUNCTION-MEDIATING AND REGULATORY PROTEIN Gene map locus 5q13.2 (link from Ensembl BioMart) ENSP00000282259 ORTHOMCL14740
604281: OMIM gene: ACTIVATOR OF S-PHASE KINASE Gene map locus 7q21.3 (link from Ensembl BioMart) ENSP00000265728 ORTHOMCL9503 jaccard_7872
604282: OMIM gene: PLEXIN D1; PLXND1 Gene map locus Chr.3 (link from Ensembl BioMart) ENSP00000317128 ORTHOMCL23061 jaccard_348
604283: OMIM gene: PROTEOGLYCAN 4; PRG4 HEMANGIOPOIETIN, INCLUDED; HAPO, INCLUDED Gene map locus 1q24-q25 (link from Ensembl BioMart) ENSP00000251819 ORTHOMCL10981 jaccard_6804
604285: OMIM gene: ALANINE-GLYOXYLATE AMINOTRANSFERASE; AGXT Gene map locus 2q36-q37 (link from Ensembl BioMart) ENSP00000302620 ORTHOMCL5120 jaccard_3972
604286: OMIM phenotype: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E Gene map locus 4q12 (link from NCBI) ENSP00000295211 ORTHOMCL11727 jaccard_1489
604289: OMIM gene: RAD54, S. CEREVISIAE, HOMOLOG OF, B Gene map locus 8q21.3-q22 (link from Ensembl BioMart) ENSP00000336606 ORTHOMCL24115 jaccard_48
604290: OMIM phenotype: ACERULOPLASMINEMIA HYPOCERULOPLASMINEMIA, INCLUDED Gene map locus 3q23-q24 (link from NCBI) ENSP00000264613 ORTHOMCL8717 jaccard_716
604292: OMIM phenotype: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3 Gene map locus 3q27 (link from NCBI) ENSP00000264731 ORTHOMCL9548 jaccard_1112
604293: OMIM gene: PLEXIN B2; PLXNB2 Gene map locus 22q13.31-q13.33 (link from Ensembl BioMart) ENSP00000352288 ORTHOMCL2364 jaccard_348
604294: OMIM gene: VENTRAL ANTERIOR HOMEOBOX 1; VAX1 Gene map locus 10q26.1 (link from Ensembl BioMart) ENSP00000277905 ORTHOMCL8176
604295: OMIM gene: VENTRAL ANTERIOR HOMEOBOX 2; VAX2 Gene map locus 2p13 (link from Ensembl BioMart) ENSP00000234392 ORTHOMCL8176
604296: OMIM gene: GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE; GRHPR Gene map locus 9cen (link from Ensembl BioMart) ENSP00000313432 ORTHOMCL2619 jaccard_263
604297: OMIM gene: SYNAPTOJANIN 1; SYNJ1 Gene map locus 21q22.2 (link from Ensembl BioMart) ENSP00000322234 ORTHOMCL205 jaccard_763
ENSP00000349903 ORTHOMCL205 jaccard_763
604298: OMIM gene: BCR DOWNSTREAM SIGNALING 1 (link from Ensembl BioMart) ENSP00000265404 ORTHOMCL23037 jaccard_4303
604299: OMIM gene: ADAPTOR PROTEIN CONTAINING PH DOMAIN, PTB DOMAIN, AND LEUCINE ZIPPER MOTIF 1 Gene map locus 3p21.1-p14.3 (link from Ensembl BioMart) ENSP00000288266 ORTHOMCL17104 jaccard_281
604300: OMIM gene: 2-@HYDROXYPHYTANOYL-CoA LYASE (link from Ensembl BioMart) ENSP00000323811 ORTHOMCL4551 jaccard_1056
604302: OMIM phenotype: RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE Gene map locus 22q11.2 (link from NCBI) ENSP00000215754 ORTHOMCL3254 jaccard_1609
604303: OMIM gene: ACTIN-LIKE 7A; ACTL7A (link from Ensembl BioMart) ENSP00000334300 jaccard_76
604304: OMIM gene: ACTIN-LIKE 7B; ACTL7B (link from Ensembl BioMart) ENSP00000277242 ORTHOMCL20376 jaccard_76
604306: OMIM gene: FAS APOPTOTIC INHIBITORY MOLECULE 2; FAIM2 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000321951 ORTHOMCL256 jaccard_445
604307: OMIM phenotype: CATARACT, COPPOCK-LIKE; CCL Gene map locus 2q33-q35 (link from NCBI) ENSP00000282141 ORTHOMCL21175 jaccard_173
ENSP00000215861 ORTHOMCL18516 jaccard_173
604308: OMIM phenotype: MASS SYNDROME Gene map locus 15q21.1 (link from NCBI) ENSP00000325527 ORTHOMCL2529 jaccard_5
604309: OMIM gene: SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT DICARBOXYLATE TRANSPORTER), MEMBER 4; SLC13A4 Gene map locus 7q33 (link from Ensembl BioMart) ENSP00000297282 ORTHOMCL18732 jaccard_581
604310: OMIM gene: PALLIDIN; PLDN Gene map locus 15q15 (link from Ensembl BioMart) ENSP00000220531 ORTHOMCL12008 jaccard_6553
604311: OMIM gene: PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-BINDING PROTEIN; PPARBP Gene map locus 17q12 (link from Ensembl BioMart) ENSP00000300651 ORTHOMCL15440 jaccard_11771
604312: OMIM gene: CYSTATIN 3; CST3 Gene map locus 20p11.2 (link from Ensembl BioMart) ENSP00000217421 ORTHOMCL20928 jaccard_839
604313: OMIM gene: GALACTOKINASE 1; GALK1 Gene map locus 17q24 (link from Ensembl BioMart) ENSP00000225614 ORTHOMCL16880 jaccard_2049
604318: OMIM gene: GTF2I REPEAT DOMAIN-CONTAINING PROTEIN 1; GTF2IRD1 Gene map locus 7q11.23 (link from Ensembl BioMart) ENSP00000265755 ORTHOMCL8655 jaccard_1404
604319: OMIM gene: TRF1-INTERACTING NUCLEAR FACTOR 2; TINF2 (link from Ensembl BioMart) ENSP00000267415 ORTHOMCL8866 jaccard_8668
604320: OMIM phenotype: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1 Gene map locus 11q13.2-q13.4 (link from NCBI) ENSP00000255078 ORTHOMCL4519 jaccard_309
604322: OMIM gene: SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 5; SLC17A5 Gene map locus 6q14-q15 (link from Ensembl BioMart) ENSP00000348019
ENSP00000311506 ORTHOMCL378 jaccard_87
604323: OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 3; ABCC3 Gene map locus 17q22 (link from Ensembl BioMart) ENSP00000285238 ORTHOMCL102 jaccard_44
604325: OMIM gene: PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, BETA; PPP2R2B Gene map locus 5q31-q33 (link from Ensembl BioMart) ENSP00000349283 ORTHOMCL498 jaccard_549
ENSP00000336591 ORTHOMCL24908 jaccard_549
604326: OMIM phenotype: SPINOCEREBELLAR ATAXIA 12; SCA12 Gene map locus 5q31-q33 (link from NCBI) ENSP00000349283 ORTHOMCL498 jaccard_549
ENSP00000336591 ORTHOMCL24908 jaccard_549
604327: OMIM gene: XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE, POLYPEPTIDE 7; B4GALT7 Gene map locus 5q35.2-q35.3 (link from Ensembl BioMart) ENSP00000029410 ORTHOMCL9434 jaccard_628
604328: OMIM gene: STRUCTURE-SPECIFIC RECOGNITION PROTEIN 1; SSRP1 Gene map locus 11q12 (link from Ensembl BioMart) ENSP00000278412 ORTHOMCL1272 jaccard_1681
604330: OMIM gene: GRB2-RELATED ADAPTOR PROTEIN; GRAP (link from Ensembl BioMart) ENSP00000284154 ORTHOMCL18352 jaccard_219
604331: OMIM gene: DEAD/H BOX 26; DDX26 Gene map locus 13q14.12-q14.2 (link from Ensembl BioMart) ENSP00000310260 ORTHOMCL2718 jaccard_2331
604332: OMIM gene: CYSTEINE-RICH HYDROPHOBIC DOMAIN 2; CHIC2 Gene map locus 4q11-q12 (link from Ensembl BioMart) ENSP00000263921 ORTHOMCL2808 jaccard_2674
604333: OMIM gene: WD REPEAT-CONTAINING PROTEIN 39; WDR39 Gene map locus 2q11.2 (link from Ensembl BioMart) ENSP00000272402 ORTHOMCL3077 jaccard_17
604334: OMIM gene: UBIQUITIN-SPECIFIC PROTEASE 6; USP6 Gene map locus 17p13 (link from Ensembl BioMart) ENSP00000250066 ORTHOMCL5087
ENSP00000305473 ORTHOMCL413 jaccard_217
604336: OMIM gene: TRANSMEMBRANE PHOSPHATASE WITH TENSIN HOMOLOGY; TPTE Gene map locus 21p (link from Ensembl BioMart) ENSP00000352722 ORTHOMCL2073 jaccard_580
ENSP00000355208 ORTHOMCL2073 jaccard_580
ENSP00000298232 ORTHOMCL2073 jaccard_580
ENSP00000344441 ORTHOMCL2073 jaccard_580
604344: OMIM gene: MANNOSIDASE, ALPHA, CLASS 1A, MEMBER 1; MAN1A1 Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000265493 ORTHOMCL938 jaccard_362
604345: OMIM gene: MANNOSIDASE, ALPHA, CLASS 1A, MEMBER 2; MAN1A2 Gene map locus 1p13 (link from Ensembl BioMart) ENSP00000346334 ORTHOMCL938 jaccard_362
604346: OMIM gene: MANNOSIDASE, ALPHA, CLASS 1B, MEMBER 1; MAN1B1 (link from Ensembl BioMart) ENSP00000320290 ORTHOMCL5204 jaccard_362
604347: OMIM gene: ZINC FINGER PROTEIN 265; ZNF265 Gene map locus 1p22.1-p21.3 (link from Ensembl BioMart) ENSP00000254821 ORTHOMCL2606 jaccard_10830
ENSP00000323728 ORTHOMCL2606 jaccard_10830
ENSP00000342788 ORTHOMCL2606 jaccard_8292
604348: OMIM phenotype: ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL Gene map locus 2q37.3 (link from NCBI) ENSP00000254657 ORTHOMCL1284 jaccard_2399
ENSP00000254658
604349: OMIM gene: LAMININ, GAMMA-3; LAMC3 Gene map locus 9q33-q34 (link from Ensembl BioMart) ENSP00000354360 ORTHOMCL2992 jaccard_5
ENSP00000347627 ORTHOMCL2992 jaccard_5
604350: OMIM gene: RAS-ASSOCIATED PROTEIN RAB3D; RAB3D Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000222120 ORTHOMCL18566 jaccard_8
604351: OMIM gene: PHD FINGER PROTEIN 2; PHF2 Gene map locus 9q22 (link from Ensembl BioMart) ENSP00000352185 ORTHOMCL11136 jaccard_489
ENSP00000349926 ORTHOMCL11136 jaccard_489
604352: OMIM phenotype: FEBRILE CONVULSIONS, FAMILIAL, 4; FEB4 Gene map locus 5q14 (link from NCBI) ENSP00000296619 ORTHOMCL4593 jaccard_3250
604353: OMIM gene: CYSTEINE- AND HISTIDINE-RICH DOMAIN-CONTAINING PROTEIN 1; CHORDC1 (link from Ensembl BioMart) ENSP00000319255 ORTHOMCL7320 jaccard_2728
604354: OMIM gene: NUCLEAR FRAGILE X MENTAL RETARDATION PROTEIN-INTERACTING PROTEIN 1; NUFIP1 Gene map locus 13q14 (link from Ensembl BioMart) ENSP00000218567 ORTHOMCL17262 jaccard_8712
604355: OMIM gene: COATOMER PROTEIN COMPLEX, SUBUNIT GAMMA-2; COPG2 Gene map locus 7q32 (link from Ensembl BioMart) ENSP00000331218
604357: OMIM gene: MAB21, C. ELEGANS, HOMOLOG-LIKE 2; MAB21L2 (link from Ensembl BioMart) ENSP00000324701 ORTHOMCL3606 jaccard_1498
604362: OMIM gene: LIM DOMAIN ONLY 7; LMO7 Gene map locus 13q21-q22 (link from Ensembl BioMart) ENSP00000342112 ORTHOMCL15661 jaccard_5455
ENSP00000349571 ORTHOMCL2517 jaccard_7545
ENSP00000317867 ORTHOMCL2517 jaccard_7545
604365: OMIM gene: PROMININ 1; PROM1 RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, PROMININ-RELATED, INCLUDED Gene map locus 4p16.2-p12 (link from Ensembl BioMart) ENSP00000265014 ORTHOMCL2180 jaccard_1180
604366: OMIM gene: DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1; DNAI1 Gene map locus 9p21-p13 (link from Ensembl BioMart) ENSP00000242317 ORTHOMCL6531 jaccard_239
604367: OMIM phenotype: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; FPLD3 Gene map locus 7q11.23-q21.11, 3p25 (link from NCBI) ENSP00000284601 ORTHOMCL22327 jaccard_10029
ENSP00000287820 ORTHOMCL20085 jaccard_18
ENSP00000312472 ORTHOMCL18176 jaccard_18
604368: OMIM gene: GLYCOPROTEIN NMB; GPNMB (link from Ensembl BioMart) ENSP00000258733 ORTHOMCL10329 jaccard_2570
604369: OMIM phenotype: SIALURIA, FINNISH TYPE Gene map locus 6q14-q15 (link from NCBI) ENSP00000311506 ORTHOMCL378 jaccard_87
ENSP00000348019
604370: OMIM phenotype: OVARIAN CANCER, EPITHELIAL ADENOCARCINOMA, OVARIAN, INCLUDED Gene map locus 11q25, 6q25.2-q27, 3q26.3 (link from NCBI) ENSP00000263967 ORTHOMCL4131 jaccard_330
ENSP00000328107 ORTHOMCL4891 jaccard_3012
ENSP00000333280 ORTHOMCL4891 jaccard_3012
ENSP00000330862 ORTHOMCL14825 jaccard_806
ENSP00000332954 jaccard_3012
604371: OMIM gene: HUMAN ENDOGENOUS RETROVIRUS-H LONG TERMINAL REPEAT-ASSOCIATING 2; HHLA2 (link from Ensembl BioMart) ENSP00000350402 ORTHOMCL15217 jaccard_11701
604372: OMIM gene: HUMAN ENDOGENOUS RETROVIRUS-H LONG TERMINAL REPEAT-ASSOCIATING 3; HHLA3 (link from Ensembl BioMart) ENSP00000352938 ORTHOMCL15947 jaccard_8960
ENSP00000350039 ORTHOMCL15947 jaccard_8960
ENSP00000354815 ORTHOMCL15947 jaccard_8960
604373: OMIM gene: CHECKPOINT KINASE 2, S. POMBE, HOMOLOG OF; CHEK2 BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO, INCLUDED Gene map locus 22q12.1 (link from Ensembl BioMart) ENSP00000329012 ORTHOMCL3563
ENSP00000329178 ORTHOMCL3563 jaccard_13
604374: OMIM gene: METALLOTHIONEIN-LIKE 5, TESTIS-SPECIFIC; MTL5 Gene map locus 11q13.2-q13.3 (link from Ensembl BioMart) ENSP00000255087 ORTHOMCL10860 jaccard_4876
604375: OMIM gene: HUMAN GROWTH FACTOR-REGULATED TYROSINE KINASE SUBSTRATE; HGS Gene map locus 17q25 (link from Ensembl BioMart) ENSP00000331201 ORTHOMCL3665 jaccard_252
604376: OMIM gene: MYELIN PROTEIN ZERO-LIKE 1; MPZL1 (link from Ensembl BioMart) ENSP00000351427 ORTHOMCL21412 jaccard_901
ENSP00000352513 ORTHOMCL18177 jaccard_901
604377: OMIM phenotype: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY Gene map locus 22q13 (link from NCBI) ENSP00000252785 ORTHOMCL3010 jaccard_2245
604378: OMIM gene: BECLIN 1; BECN1 Gene map locus 17q21 (link from Ensembl BioMart) ENSP00000355231 ORTHOMCL3396 jaccard_2345
604383: OMIM gene: GROWTH FACTOR-INDEPENDENT 1B; GFI1B Gene map locus 9q34.13 (link from Ensembl BioMart) ENSP00000344782 ORTHOMCL14530 jaccard_8256
604384: OMIM gene: ATPase, Ca(2+)-TRANSPORTING, TYPE 2C, MEMBER 1; ATP2C1 Gene map locus 3q21-q24 (link from Ensembl BioMart) ENSP00000352665 ORTHOMCL1378 jaccard_30
ENSP00000329664 ORTHOMCL1378 jaccard_30
604385: OMIM gene: SODIUM CHANNEL, VOLTAGE-GATED, TYPE XI, ALPHA SUBUNIT; SCN11A Gene map locus 3p24-p21 (link from Ensembl BioMart) ENSP00000307599 ORTHOMCL251 jaccard_70
604386: OMIM gene: ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1 Gene map locus 8q24.12 (link from Ensembl BioMart) ENSP00000220888 ORTHOMCL8051 jaccard_491
604387: OMIM phenotype: NEPHRONOPHTHISIS 3; NPHP3 Gene map locus 3q22 (link from NCBI) ENSP00000338766 ORTHOMCL7002 jaccard_5407