Human disease genes 604505-604613

604388-604504 --- 604614-604717

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
604505: OMIM gene: THYROID HORMONE RECEPTOR INTERACTOR 11; TRIP11 GOLGI-MICROTUBULE-ASSOCIATED PROTEIN, 200-KD, INCLUDED; GMAP200, INCLUDED Gene map locus 14q31-q32 (link from Ensembl BioMart) ENSP00000267622 ORTHOMCL6886 jaccard_3
604506: OMIM gene: THYROID HORMONE RECEPTOR INTERACTOR 12; TRIP12 Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000283943 ORTHOMCL2496 jaccard_953
604507: OMIM gene: THYROID HORMONE RECEPTOR INTERACTOR 13; TRIP13 (link from Ensembl BioMart) ENSP00000166345 ORTHOMCL5584 jaccard_6664
604508: OMIM gene: COP9, SUBUNIT 2; COPS2 Gene map locus 15q21.2 (link from Ensembl BioMart) ENSP00000299259 ORTHOMCL6316 jaccard_1260
604509: OMIM gene: INTERLEUKIN 18 RECEPTOR ACCESSORY PROTEIN; IL18RAP Gene map locus 2q12 (link from Ensembl BioMart) ENSP00000264260 ORTHOMCL23139 jaccard_1009
604510: OMIM gene: HYALURONOGLUCOSAMINIDASE 4; HYAL4 Gene map locus 7q31 (link from Ensembl BioMart) ENSP00000223026 ORTHOMCL18788 jaccard_670
604511: OMIM gene: CHROMOBOX HOMOLOG 1; CBX1 (link from Ensembl BioMart) ENSP00000225603 ORTHOMCL2382 jaccard_729
604512: OMIM gene: INTERLEUKIN 1 RECEPTOR-LIKE 2; IL1RL2 Gene map locus 2q12 (link from Ensembl BioMart) ENSP00000264257 ORTHOMCL13440 jaccard_1009
604513: OMIM gene: CD84 ANTIGEN; CD84 (link from Ensembl BioMart) ENSP00000316508 ORTHOMCL10603 jaccard_786
604514: OMIM gene: SH2 DOMAIN PROTEIN 2A; SH2D2A Gene map locus 1q21 (link from Ensembl BioMart) ENSP00000029627 ORTHOMCL17926 jaccard_4415
604515: OMIM gene: B-CELL LINKER PROTEIN; BLNK HYPOGLOBULINEMIA AND ABSENT B CELLS, INCLUDED Gene map locus 10q23.2 (link from Ensembl BioMart) ENSP00000224337 ORTHOMCL9786 jaccard_2006
604516: OMIM gene: IMMUNOGLOBULIN SUPERFAMILY, MEMBER 2; IGSF2 (link from Ensembl BioMart) ENSP00000256652 ORTHOMCL7165 jaccard_1596
604517: OMIM gene: PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA; PPARGC1A Gene map locus 4p15.1 (link from Ensembl BioMart) ENSP00000264867 ORTHOMCL15513 jaccard_4732
604518: OMIM gene: GRB2-RELATED ADAPTOR PROTEIN 2; GRAP2 Gene map locus 22q12-qter (link from Ensembl BioMart) ENSP00000339186 ORTHOMCL9068 jaccard_219
604520: OMIM gene: TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 14; TNFSF14 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000245912 ORTHOMCL25141 jaccard_950
604521: OMIM gene: 3-@HYDROXYANTHRANILATE 3,4-DIOXYGENASE; HAAO (link from Ensembl BioMart) ENSP00000294973 ORTHOMCL7666 jaccard_5130
604523: OMIM gene: CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 1; CELSR1 Gene map locus 22q13.3 (link from Ensembl BioMart) ENSP00000262738 ORTHOMCL1653 jaccard_1485
604524: OMIM gene: LYMPHOCYTE ANTIGEN 75; LY75 (link from Ensembl BioMart) ENSP00000263636 ORTHOMCL7650 jaccard_23
604525: OMIM gene: HISTAMINE RECEPTOR H3; HRH3 (link from Ensembl BioMart) ENSP00000342560 ORTHOMCL8414 jaccard_19
ENSP00000353875 ORTHOMCL8414 jaccard_19
604526: OMIM gene: ISOCITRATE DEHYDROGENASE 3, BETA SUBUNIT; IDH3B Gene map locus 20p13 (link from Ensembl BioMart) ENSP00000245969 ORTHOMCL3260 jaccard_558
ENSP00000344793 ORTHOMCL3260 jaccard_558
604527: OMIM gene: POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 3; KCNH3 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000257981 ORTHOMCL15689 jaccard_111
604528: OMIM gene: POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 4; KCNH4 (link from Ensembl BioMart) ENSP00000264661 ORTHOMCL2717 jaccard_111
604529: OMIM gene: ORTHOPEDIA, DROSOPHILA, HOMOLOG OF; OTP Gene map locus 5q13.3 (link from Ensembl BioMart) ENSP00000302814 ORTHOMCL6020 jaccard_329
604530: OMIM gene: NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 1; NCR1 Gene map locus Chr.19 (link from Ensembl BioMart) ENSP00000291890 ORTHOMCL9155 jaccard_2
604531: OMIM gene: NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 2; NCR2 Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000229454 jaccard_423
604532: OMIM gene: POLYCYSTIN 2-LIKE 1; PKD2L1 Gene map locus 10q24-q25 (link from Ensembl BioMart) ENSP00000325296 ORTHOMCL6208 jaccard_1310
604533: OMIM gene: INTERFERON-STIMULATED GENE, 20-KD; ISG20 Gene map locus 15q26 (link from Ensembl BioMart) ENSP00000306565 ORTHOMCL14572 jaccard_1079
604534: OMIM gene: CD83 ANTIGEN; CD83 Gene map locus 6p23 (link from Ensembl BioMart) ENSP00000262078 ORTHOMCL22241 jaccard_12433
604535: OMIM gene: KINESIN FAMILY MEMBER C3; KIFC3 Gene map locus 16q13-q21 (link from Ensembl BioMart) ENSP00000268514 ORTHOMCL825 jaccard_38
604536: OMIM phenotype: ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME Gene map locus 1q32 (link from NCBI) ENSP00000295597 ORTHOMCL14714 jaccard_379
ENSP00000263946 ORTHOMCL14714 jaccard_379
604538: OMIM gene: KINESIN FAMILY MEMBER 2C; KIF2C Gene map locus 1p34.1 (link from Ensembl BioMart) ENSP00000271119 ORTHOMCL756 jaccard_38
604539: OMIM gene: A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 2; ADAMTS2 Gene map locus 5q23 (link from Ensembl BioMart) ENSP00000251582 ORTHOMCL606 jaccard_41
ENSP00000274609
604540: OMIM gene: KERATIN, HAIR, ACIDIC, 6; KRTHA6 Gene map locus 17q12-q21 (link from Ensembl BioMart) ENSP00000329165 jaccard_0
604541: OMIM gene: KERATIN, HAIR, ACIDIC, 7; KRTHA7 Gene map locus 17q12-q21 (link from Ensembl BioMart) ENSP00000225550 ORTHOMCL25053 jaccard_0
604542: OMIM gene: KERATIN, HAIR, ACIDIC, 8; KRTHA8 Gene map locus 17q12-q21 (link from Ensembl BioMart) ENSP00000246646 ORTHOMCL25053 jaccard_0
604543: OMIM gene: LIM DOMAIN-CONTAINING PROTEIN 1; LIMD1 Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000273317 ORTHOMCL17794 jaccard_37
604544: OMIM gene: LEUCYL-tRNA SYNTHETASE, MITOCHONDRIAL Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000265537 ORTHOMCL3866 jaccard_4619
604545: OMIM gene: KARYOPHERIN ALPHA-5; KPNA5 (link from Ensembl BioMart) ENSP00000348704 jaccard_134
604546: OMIM gene: NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR-LIKE 2; NFKBIL2 Gene map locus 8q24.3 (link from Ensembl BioMart) ENSP00000292520 ORTHOMCL7017 jaccard_6191
604548: OMIM gene: NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, EPSILON; NFKBIE (link from Ensembl BioMart) ENSP00000275015 ORTHOMCL17937
604550: OMIM gene: DENSITY-REGULATED PROTEIN; DENR (link from Ensembl BioMart) ENSP00000280557 ORTHOMCL5045 jaccard_4499
604551: OMIM gene: CHOLESTEROL 25-HYDROXYLASE; CH25H Gene map locus 10q23 (link from Ensembl BioMart) ENSP00000260706 ORTHOMCL16874 jaccard_599
604552: OMIM gene: HEPATOCYTE GROWTH FACTOR ACTIVATOR; HGFAC Gene map locus 4p16 (link from Ensembl BioMart) ENSP00000264755 ORTHOMCL22420 jaccard_10
604553: OMIM gene: HEAT-SHOCK FACTOR-BINDING PROTEIN 1; HSBP1 (link from Ensembl BioMart) ENSP00000299671 ORTHOMCL5361 jaccard_3687
604554: OMIM gene: HEAT-SHOCK TRANSCRIPTION FACTOR 2-BINDING PROTEIN; HSF2BP Gene map locus 21q22.3 (link from Ensembl BioMart) ENSP00000291560 ORTHOMCL13732 jaccard_9394
604555: OMIM gene: CADHERIN 10; CDH10 Gene map locus 5p14-p13 (link from Ensembl BioMart) ENSP00000264463 ORTHOMCL3881 jaccard_14
604556: OMIM gene: DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1B; DYRK1B Gene map locus 19q12-q13.11 (link from Ensembl BioMart) ENSP00000312789 ORTHOMCL4264 jaccard_95
ENSP00000221803 ORTHOMCL4264 jaccard_95
604557: OMIM gene: ZINC FINGER PROTEIN 423; ZNF423 (link from Ensembl BioMart) ENSP00000262383 ORTHOMCL1260 jaccard_1
604558: OMIM gene: INDUCIBLE T-CELL COSTIMULATOR; ICOS Gene map locus 2q33 (link from Ensembl BioMart) ENSP00000319476 ORTHOMCL18481 jaccard_3730
604561: OMIM gene: ALPHA-1,3-@MANNOSYL-GLYCOPROTEIN BETA-1,4-N-ACETYLGLUCOSAMINYLTRANSFERASE, ISOZYME B; MGAT4B Gene map locus 5q35 (link from Ensembl BioMart) ENSP00000292591 ORTHOMCL9412 jaccard_1339
ENSP00000338487 ORTHOMCL9412 jaccard_1339
604562: OMIM gene: ACINUS Gene map locus Chr.14 (link from Ensembl BioMart) ENSP00000262710 ORTHOMCL2021 jaccard_9125
604563: OMIM phenotype: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA, INCLUDED Gene map locus 11p15 (link from NCBI) ENSP00000256190 ORTHOMCL1917 jaccard_2762
604564: OMIM gene: GLUTATHIONE S-TRANSFERASE, MICROSOMAL, 3; MGST3 Gene map locus 1q23 (link from Ensembl BioMart) ENSP00000271420 ORTHOMCL12027 jaccard_2114
604565: OMIM gene: ALG5, S. CEREVISIAE, HOMOLOG OF (link from Ensembl BioMart) ENSP00000239891 ORTHOMCL4699 jaccard_1699
604567: OMIM gene: DOUBLE C2-LIKE DOMAIN-CONTAINING PROTEIN, ALPHA; DOC2A (link from Ensembl BioMart) ENSP00000340017 ORTHOMCL9750 jaccard_46
604569: OMIM gene: CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2 Gene map locus 7q35-q36 (link from Ensembl BioMart) ENSP00000354778 ORTHOMCL108 jaccard_5
604570: OMIM gene: SHROOM, MOUSE, HOMOLOG OF (link from Ensembl BioMart) ENSP00000264907 ORTHOMCL9343 jaccard_1999
604571: OMIM phenotype: BARE LYMPHOCYTE SYNDROME, TYPE I Gene map locus 6p21.3, 6p21.3, 6p21.3 (link from NCBI) ENSP00000230255 ORTHOMCL12867 jaccard_5096
ENSP00000346206
ENSP00000320676 ORTHOMCL17734 jaccard_44
604572: OMIM gene: DNAJ, E. COLI, HOMOLOG OF, SUBFAMILY B, MEMBER 1; DNAJB1 Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000254322 ORTHOMCL215 jaccard_141
604573: OMIM gene: CHROMOSOME 14 OPEN READING FRAME 2; C14ORF2 Gene map locus 14q32.33 (link from Ensembl BioMart) ENSP00000286953 ORTHOMCL24950 jaccard_12153
604574: OMIM gene: CHROMOSOME 9 OPEN READING FRAME 4; C9ORF4 Gene map locus 9q31-q33 (link from Ensembl BioMart) ENSP00000259327 ORTHOMCL22816 jaccard_9605
604575: OMIM gene: CHROMOSOME 11 OPEN READING FRAME 5; C11ORF5 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000308548 ORTHOMCL7427 jaccard_5842
604576: OMIM gene: CHROMOSOME 14 OPEN READING FRAME 1; C14ORF1 Gene map locus 14q24 (link from Ensembl BioMart) ENSP00000256319 ORTHOMCL11220 jaccard_6784
604577: OMIM gene: BLOOD VESSEL EPICARDIAL SUBSTANCE; BVES Gene map locus 6q21 (link from Ensembl BioMart) ENSP00000313172 ORTHOMCL5173 jaccard_1731
ENSP00000337259 ORTHOMCL5173 jaccard_1731
604578: OMIM gene: ABSENT IN MELANOMA 2; AIM2 Gene map locus 1q22 (link from Ensembl BioMart) ENSP00000295811 jaccard_1369
604579: OMIM gene: FRIZZLED, DROSOPHILA, HOMOLOG OF, 4; FZD4 Gene map locus 11q14-q21 (link from Ensembl BioMart) ENSP00000311581 ORTHOMCL20527 jaccard_407
604580: OMIM gene: FIBULIN 5; FBLN5 Gene map locus 14q32.1 (link from Ensembl BioMart) ENSP00000345008 ORTHOMCL10002 jaccard_5
604581: OMIM gene: ATPase FAMILY GENE 3-LIKE 2; AFG3L2 Gene map locus 18p11 (link from Ensembl BioMart) ENSP00000269143 ORTHOMCL3026 jaccard_444
604582: OMIM gene: A-KINASE ANCHOR PROTEIN 2; AKAP2 Gene map locus 9q31-q33 (link from Ensembl BioMart) ENSP00000322967 ORTHOMCL6016 jaccard_13467
604583: OMIM gene: PROGRAMMED CELL DEATH 5; PDCD5 (link from Ensembl BioMart) ENSP00000221784 ORTHOMCL3819 jaccard_3227
604584: OMIM gene: PLATELET-DERIVED GROWTH FACTOR RECEPTOR-LIKE; PDGFRL Gene map locus 8p22-p21.3 (link from Ensembl BioMart) ENSP00000251630 ORTHOMCL16082 jaccard_9233
604585: OMIM gene: NUCLEAR ANTIGEN SP100; SP100 SP100B, INCLUDED Gene map locus 2q37.1 (link from Ensembl BioMart) ENSP00000264052 ORTHOMCL1095 jaccard_1186
604586: OMIM gene: SYNTAXIN-BINDING PROTEIN 5; STXBP5 Gene map locus 6q24.3 (link from Ensembl BioMart) ENSP00000321826 ORTHOMCL737 jaccard_13764
ENSP00000179882 ORTHOMCL737 jaccard_774
604587: OMIM gene: NUCLEAR DOMAIN 10 PROTEIN 52 (link from Ensembl BioMart) ENSP00000258947 ORTHOMCL13701
604588: OMIM phenotype: NEVER IN MITOSIS GENE A-RELATED KINASE 1; NEK1 (link from Ensembl BioMart) ENSP00000336715 ORTHOMCL4209 jaccard_5110
604589: OMIM gene: BROMODOMAIN-CONTAINING PROTEIN 1; BRD1 Gene map locus 22q13 (link from Ensembl BioMart) ENSP00000216267 ORTHOMCL1365 jaccard_2515
604591: OMIM gene: PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN; PBP Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000261313 ORTHOMCL546 jaccard_867
604592: OMIM gene: T CELL IMMUNE REGULATOR 1; TCIRG1 TIRC7, INCLUDED Gene map locus 11q13.4-q13.5 (link from Ensembl BioMart) ENSP00000265686 ORTHOMCL4032 jaccard_374
604593: OMIM gene: KINESIN FAMILY MEMBER 5C; KIF5C Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000334176 jaccard_38
604594: OMIM gene: CYSTEINE-RICH INTERACTOR OF PDZ3 (link from Ensembl BioMart) ENSP00000238892 ORTHOMCL7311 jaccard_4945
604596: OMIM gene: F-BOX AND WD40 DOMAIN PROTEIN 10; FBXW10 (link from Ensembl BioMart) ENSP00000310382 ORTHOMCL11830 jaccard_7692
604597: OMIM gene: GLUTAMATE RECEPTOR-INTERACTING PROTEIN 1; GRIP1 (link from Ensembl BioMart) ENSP00000286445 ORTHOMCL3240 jaccard_33
ENSP00000352780 ORTHOMCL3240 jaccard_33
604598: OMIM gene: CHROMOSOME 8 OPEN READING FRAME 1; C8ORF1 Gene map locus 8q21 (link from Ensembl BioMart) ENSP00000297438 ORTHOMCL12087 jaccard_2887
604599: OMIM gene: HLA-B-ASSOCIATED TRANSCRIPT 8; BAT8 (link from Ensembl BioMart) ENSP00000259865 ORTHOMCL238 jaccard_2047
ENSP00000229735 ORTHOMCL238 jaccard_2047
604601: OMIM gene: TRANSLATIONAL RELEASE FACTOR, MITOCHONDRIAL, 1; MTRF1 Gene map locus 13q14.1-q14.3 (link from Ensembl BioMart) ENSP00000326351 ORTHOMCL24127 jaccard_1182
604602: OMIM gene: RIBOSOME-RECYCLING FACTOR, MITOCHONDRIAL; MRRF Gene map locus 9q32-q34.1 (link from Ensembl BioMart) ENSP00000297908 ORTHOMCL3330 jaccard_2249
ENSP00000343867 jaccard_2249
ENSP00000345545 jaccard_2249
604603: OMIM gene: FER-1, C. ELEGANS, HOMOLOG-LIKE 3; FER1L3 (link from Ensembl BioMart) ENSP00000343841 ORTHOMCL522 jaccard_410
604604: OMIM gene: CHROMOSOME 4 OPEN READING FRAME 1; C4ORF1 Gene map locus 4p13-p12 (link from Ensembl BioMart) ENSP00000264451 ORTHOMCL5007 jaccard_2818
604605: OMIM gene: HUNTINGTIN-ASSOCIATED PROTEIN-INTERACTING PROTEIN; HAPIP (link from Ensembl BioMart) ENSP00000240874 ORTHOMCL277 jaccard_55
ENSP00000353109 ORTHOMCL277 jaccard_55
ENSP00000291478 ORTHOMCL277 jaccard_2
604606: OMIM gene: ODORANT-BINDING PROTEIN 2B Gene map locus 9q34 (link from Ensembl BioMart) ENSP00000238389 ORTHOMCL4331 jaccard_311
604607: OMIM gene: HOMEOBOX B13; HOXB13 Gene map locus 17q21.2 (link from Ensembl BioMart) ENSP00000290295 ORTHOMCL13790 jaccard_7019
604609: OMIM gene: MUCIN 12; MUC12 Gene map locus 7q22 (link from Ensembl BioMart) ENSP00000306919
604610: OMIM gene: RECQ PROTEIN-LIKE 3; RECQL3 Gene map locus 15q26.1 (link from Ensembl BioMart) ENSP00000347232 ORTHOMCL2917 jaccard_2043
604611: OMIM gene: RECQ PROTEIN-LIKE 2; RECQL2 Gene map locus 8p12-p11.2 (link from Ensembl BioMart) ENSP00000298139 ORTHOMCL7352 jaccard_2043
604612: OMIM gene: NK2, DROSOPHILA, HOMOLOG OF, B; NKX2B Gene map locus 20p11 (link from Ensembl BioMart) ENSP00000246017 ORTHOMCL9219
604613: OMIM gene: T-BOX 18; TBX18 (link from Ensembl BioMart) ENSP00000230608 ORTHOMCL24571 jaccard_166