Human disease genes 600465-600586

600328-600464 --- 600587-600735

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
600465: OMIM gene: ANKYRIN 3; ANK3 Gene map locus 10q21 (link from Ensembl BioMart) ENSP00000347436 ORTHOMCL120 jaccard_2148
ENSP00000280772 ORTHOMCL120 jaccard_11
ENSP00000280771 ORTHOMCL120 jaccard_11
600466: OMIM gene: ALDEHYDE DEHYDROGENASE 3 FAMILY, MEMBER B1; ALDH3B1 Gene map locus Chr.11 (link from Ensembl BioMart) ENSP00000007633 ORTHOMCL352 jaccard_88
ENSP00000341582 ORTHOMCL352 jaccard_88
600469: OMIM gene: NUCLEAR CAP-BINDING PROTEIN 1; NCBP1 Gene map locus 9q22.3-q31 (link from Ensembl BioMart) ENSP00000259464 ORTHOMCL4677 jaccard_3891
600470: OMIM gene: ZINC FINGER PROTEIN OF CEREBELLUM, 1; ZIC1 Gene map locus 3q24 (link from Ensembl BioMart) ENSP00000282928 ORTHOMCL6866 jaccard_2734
600471: OMIM gene: DEFENSIN, ALPHA, 6; DEFA6 Gene map locus 8pter-p21 (link from Ensembl BioMart) ENSP00000297436 ORTHOMCL1253 jaccard_1815
600472: OMIM gene: DEFENSIN, ALPHA, 5; DEFA5 Gene map locus 8pter-p21 (link from Ensembl BioMart) ENSP00000329890 ORTHOMCL1253 jaccard_1815
600473: OMIM gene: PURINE-RICH ELEMENT-BINDING PROTEIN A; PURA Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000332706 ORTHOMCL1278 jaccard_1320
600474: OMIM gene: CATHELICIDIN ANTIMICROBIAL PEPTIDE; CAMP Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000296435 ORTHOMCL21355 jaccard_7561
600475: OMIM gene: TAF10 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 30-KD; TAF10 Gene map locus 11p15.3 (link from Ensembl BioMart) ENSP00000299424 ORTHOMCL4169 jaccard_3222
600477: OMIM gene: SOLUTE CARRIER FAMILY 9, ISOFORM A5; SLC9A5 Gene map locus 16q22.1 (link from Ensembl BioMart) ENSP00000299798 ORTHOMCL794 jaccard_314
600480: OMIM gene: TRANSCRIPTION FACTOR 12; TCF12 TCF12/NR4A3 FUSION GENE, INCLUDED Gene map locus 15q21 (link from Ensembl BioMart) ENSP00000331057 ORTHOMCL7558 jaccard_1755
ENSP00000342459 ORTHOMCL7558 jaccard_1755
ENSP00000267811 ORTHOMCL17270 jaccard_1755
600481: OMIM gene: STEROL REGULATORY ELEMENT-BINDING TRANSCRIPTION FACTOR 2; SREBF2 Gene map locus 22q13 (link from Ensembl BioMart) ENSP00000354476 ORTHOMCL957 jaccard_1523
600483: OMIM gene: FIBROBLAST GROWTH FACTOR 8; FGF8 Gene map locus 10q24 (link from Ensembl BioMart) ENSP00000321797 ORTHOMCL12467 jaccard_176
ENSP00000321945 ORTHOMCL12467 jaccard_176
ENSP00000344306 jaccard_176
ENSP00000340039 jaccard_176
600487: OMIM gene: PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 4; PCSK4 Gene map locus Chr.19 (link from Ensembl BioMart) ENSP00000300954 ORTHOMCL12519 jaccard_363
600488: OMIM gene: PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 5; PCSK5 Gene map locus 9q21.3 (link from Ensembl BioMart) ENSP00000265283 ORTHOMCL665 jaccard_363
600489: OMIM gene: NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 1; NFATC1 Gene map locus 18q23 (link from Ensembl BioMart) ENSP00000316553
ENSP00000327850 ORTHOMCL10291 jaccard_1295
ENSP00000253506 ORTHOMCL10291 jaccard_1295
600490: OMIM gene: NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 2; NFATC2 Gene map locus 20q13.2-q13.3 (link from Ensembl BioMart) ENSP00000346980 ORTHOMCL8108 jaccard_1295
ENSP00000345986 ORTHOMCL8108 jaccard_1295
600491: OMIM gene: MICROFIBRIL-ASSOCIATED PROTEIN 3; MFAP3 Gene map locus 5q32-q33.3 (link from Ensembl BioMart) ENSP00000322956 ORTHOMCL20794 jaccard_3168
600492: OMIM gene: NUCLEAR FACTOR ERYTHROID 2-LIKE 2; NFE2L2 Gene map locus 2q31 (link from Ensembl BioMart) ENSP00000354279 ORTHOMCL1628 jaccard_1151
600493: OMIM gene: EGF-LIKE MODULE-CONTAINING, MUCIN-LIKE HORMONE RECEPTOR 1; EMR1 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000311545 ORTHOMCL12109 jaccard_59
600494: OMIM gene: POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 2; POU3F2 Gene map locus 6q16 (link from Ensembl BioMart) ENSP00000329170 ORTHOMCL15018 jaccard_232
600495: OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 4-GAMMA, 1; EIF4G1 Gene map locus 3q27 (link from Ensembl BioMart) ENSP00000338020 ORTHOMCL463 jaccard_636
ENSP00000323737 ORTHOMCL463 jaccard_636
ENSP00000317600 ORTHOMCL463 jaccard_636
ENSP00000316879 ORTHOMCL463 jaccard_636
600496: OMIM phenotype: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE III; MODY3 Gene map locus 12q24.2 (link from NCBI) ENSP00000257555 ORTHOMCL23546 jaccard_1379
600497: OMIM gene: PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-2; PRKAA2 Gene map locus 1p31 (link from Ensembl BioMart) ENSP00000294393 ORTHOMCL608 jaccard_13
600501: OMIM phenotype: ABCD SYNDROME Gene map locus 13q22 (link from NCBI) ENSP00000343922 ORTHOMCL7571 jaccard_6
ENSP00000335311 ORTHOMCL7571 jaccard_6
600502: OMIM gene: IMMUNOGLOBULIN MU BINDING PROTEIN 2; IGHMBP2 Gene map locus 11q13.2-q13.4 (link from Ensembl BioMart) ENSP00000255078 ORTHOMCL4519 jaccard_309
600503: OMIM gene: ACTIVATED RNA POLYMERASE II TRANSCRIPTION COFACTOR 4 (link from Ensembl BioMart) ENSP00000265073 ORTHOMCL2293 jaccard_2650
600504: OMIM gene: POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 4; KCNJ4 Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000306497 ORTHOMCL17275 jaccard_224
600508: OMIM gene: NCK ADAPTOR PROTEIN 1; NCK1 Gene map locus 3q21 (link from Ensembl BioMart) ENSP00000288986 ORTHOMCL4006 jaccard_219
600509: OMIM gene: ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8; ABCC8 Gene map locus 11p15.1 (link from Ensembl BioMart) ENSP00000303960 ORTHOMCL2514 jaccard_44
600512: OMIM phenotype: EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE Gene map locus 10q24 (link from NCBI) ENSP00000265991 ORTHOMCL13951 jaccard_1970
600513: OMIM phenotype: EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 Gene map locus 20q13.2-q13.3 (link from NCBI) ENSP00000217176 ORTHOMCL19934 jaccard_32
600514: OMIM gene: REELIN; RELN Gene map locus 7q22 (link from Ensembl BioMart) ENSP00000345694 jaccard_4464
600515: OMIM gene: PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 12; P2RY12 Gene map locus 3q24-q25 (link from Ensembl BioMart) ENSP00000307259 ORTHOMCL11938 jaccard_6
600516: OMIM gene: BCL2 ANTAGONIST KILLER 1; BAK1 Gene map locus 6p21.3-p21.2 (link from Ensembl BioMart) ENSP00000032294 ORTHOMCL12047 jaccard_533
600517: OMIM gene: SQUAMOUS CELL CARCINOMA ANTIGEN 1; SCCA1 Gene map locus 18q21.3 (link from Ensembl BioMart) ENSP00000343445 ORTHOMCL52 jaccard_51
600518: OMIM gene: SQUAMOUS CELL CARCINOMA ANTIGEN 2; SCCA2 Gene map locus 18q21.3 (link from Ensembl BioMart) ENSP00000283752 ORTHOMCL52 jaccard_51
600519: OMIM gene: GENERAL TRANSCRIPTION FACTOR IIA, GAMMA SUBUNIT; GTF2A2 (link from Ensembl BioMart) ENSP00000267869 ORTHOMCL4592 jaccard_3063
600520: OMIM gene: GENERAL TRANSCRIPTION FACTOR IIA, ALPHA/BETA SUBUNITS; GTF2A1 (link from Ensembl BioMart) ENSP00000298173 ORTHOMCL2127 jaccard_1497
ENSP00000341827 jaccard_1497
600521: OMIM gene: MANNAN-BINDING LECTIN SERINE PROTEASE 1; MASP1 Gene map locus 3q27-q28 (link from Ensembl BioMart) ENSP00000169293 jaccard_34
ENSP00000336792 ORTHOMCL20984 jaccard_34
ENSP00000296280 ORTHOMCL19976 jaccard_34
600522: OMIM gene: PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A Gene map locus 1q25 (link from Ensembl BioMart) ENSP00000264143 ORTHOMCL12348 jaccard_1611
600523: OMIM gene: SOLUTE CARRIER FAMILY 11 (PROTON-COUPLED DIVALENT METAL ION TRANSPORTER), MEMBER 2; SLC11A2 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000262052 ORTHOMCL569 jaccard_1064
ENSP00000262051 ORTHOMCL569 jaccard_1064
600524: OMIM gene: RYK RECEPTOR-LIKE TYROSINE KINASE; RYK (link from Ensembl BioMart) ENSP00000296084 ORTHOMCL5133 jaccard_9855
600525: OMIM gene: DISTAL-LESS HOMEOBOX 3; DLX3 Gene map locus 17q21.3-q22 (link from Ensembl BioMart) ENSP00000172196 ORTHOMCL15107 jaccard_11901
600526: OMIM gene: ELKL MOTIF KINASE; EMK1 Gene map locus 11q12-q13 (link from Ensembl BioMart) ENSP00000294247 ORTHOMCL246 jaccard_13
ENSP00000265458 ORTHOMCL246 jaccard_13
600527: OMIM gene: EPHRIN B2; EFNB2 Gene map locus 13q33 (link from Ensembl BioMart) ENSP00000245323 ORTHOMCL4386 jaccard_1377
600528: OMIM gene: CARNITINE PALMITOYLTRANSFERASE I, LIVER; CPT1A Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000265641 ORTHOMCL2479 jaccard_244
600529: OMIM gene: AU-SPECIFIC RNA-BINDING PROTEIN; AUH Gene map locus Chr.9 (link from Ensembl BioMart) ENSP00000277161 ORTHOMCL2756 jaccard_153
600530: OMIM gene: SOLUTE CARRIER FAMILY 9, ISOFORM A2; SLC9A2 Gene map locus 2q11.2 (link from Ensembl BioMart) ENSP00000233969 ORTHOMCL21297 jaccard_314
600531: OMIM gene: SOLUTE CARRIER FAMILY 9, ISOFORM A4; SLC9A4 Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000295269
600532: OMIM gene: NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 2; NDUFV2 Gene map locus 18p11.31-p11.2 (link from Ensembl BioMart) ENSP00000327268 ORTHOMCL7501 jaccard_3960
600533: OMIM gene: VANG-LIKE 2; VANGL2 Gene map locus 1q21-q23 (link from Ensembl BioMart) ENSP00000294787 ORTHOMCL13636 jaccard_3345
600534: OMIM gene: BONE MARROW STROMAL CELL ANTIGEN 2; BST2 Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000252593 ORTHOMCL19700 jaccard_12417
600535: OMIM gene: MESENCHYME HOMEOBOX 2; MEOX2 Gene map locus 7p22.1-p21.3 (link from Ensembl BioMart) ENSP00000262041 ORTHOMCL10205 jaccard_13468
600536: OMIM gene: INTEGRIN, ALPHA-7; ITGA7 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000257879 ORTHOMCL5244 jaccard_160
ENSP00000257880 ORTHOMCL5244 jaccard_160
600537: OMIM gene: RECQ PROTEIN-LIKE; RECQL Gene map locus 12p12-p11 (link from Ensembl BioMart) ENSP00000318727 ORTHOMCL4013 jaccard_6090
600538: OMIM gene: PEROXIREDOXIN 2; PRDX2 (link from Ensembl BioMart) ENSP00000301522 ORTHOMCL654 jaccard_368
ENSP00000334063 jaccard_368
600539: OMIM gene: PROTEIN KINASE C, IOTA FORM; PRKCI Gene map locus 3p25-q27 (link from Ensembl BioMart) ENSP00000295797 ORTHOMCL9882 jaccard_29
600540: OMIM gene: TRANSCRIPTION FACTOR Sp4; SP4 Gene map locus 7p15 (link from Ensembl BioMart) ENSP00000222584 ORTHOMCL7191 jaccard_2519
600541: OMIM gene: ETS VARIANT GENE 1; ETV1 ETV1-TMPRSS2 FUSION GENE, INCLUDED Gene map locus 7p22 (link from Ensembl BioMart) ENSP00000242066 ORTHOMCL17852 jaccard_1265
600542: OMIM gene: NUCLEAR RECEPTOR SUBFAMILY 4, GROUP A, MEMBER 3; NR4A3 CSMF/EWS FUSION GENE, INCLUDED Gene map locus 9q22 (link from Ensembl BioMart) ENSP00000333122 ORTHOMCL12464 jaccard_18
ENSP00000340301
ENSP00000238459 ORTHOMCL12464 jaccard_18
600543: OMIM gene: V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 4; ERBB4 Gene map locus 2q33.3-q34 (link from Ensembl BioMart) ENSP00000342235 ORTHOMCL901 jaccard_512
600544: OMIM gene: SOLUTE CARRIER FAMILY 15 (OLIGOPEPTIDE TRANSPORTER), MEMBER 1; SLC15A1 Gene map locus 13q33-q34 (link from Ensembl BioMart) ENSP00000349221 ORTHOMCL75 jaccard_203
600547: OMIM gene: CYSTEINE CONJUGATE BETA-LYASE Gene map locus Chr.9 (link from Ensembl BioMart) ENSP00000302227 ORTHOMCL1067 jaccard_182
600548: OMIM gene: HEAT-SHOCK 70-KD PROTEIN 9B; HSPA9B Gene map locus 5q31.1 (link from Ensembl BioMart) ENSP00000297185 ORTHOMCL3299 jaccard_101
600549: OMIM gene: IK CYTOKINE, DOWNREGULATOR OF HLA II; IK Gene map locus 5q22-q23 (link from Ensembl BioMart) ENSP00000261812 ORTHOMCL5858 jaccard_11755
600550: OMIM gene: CATHEPSIN O; CTSO (link from Ensembl BioMart) ENSP00000281527 ORTHOMCL5356 jaccard_73
600551: OMIM gene: G PROTEIN-COUPLED RECEPTOR 4; GPR4 Gene map locus 19q13.2-q13.3 (link from Ensembl BioMart) ENSP00000319744 ORTHOMCL16351 jaccard_6
600552: OMIM gene: CHEMOKINE, C MOTIF, RECEPTOR 1; XCR1 Gene map locus 3p21.3-p21.1 (link from Ensembl BioMart) ENSP00000310405 ORTHOMCL14794 jaccard_6
600553: OMIM gene: G PROTEIN-COUPLED RECEPTOR 6; GPR6 Gene map locus 6q21-q22.1 (link from Ensembl BioMart) ENSP00000275169 ORTHOMCL11577 jaccard_19
600554: OMIM gene: INTERLEUKIN 15; IL15 Gene map locus 4q31 (link from Ensembl BioMart) ENSP00000296545 ORTHOMCL17420 jaccard_5966
600555: OMIM gene: SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1 STAT1 DEFICIENCY, COMPLETE, INCLUDED Gene map locus 2q32.2-q32.3 (link from Ensembl BioMart) ENSP00000354394 ORTHOMCL12916 jaccard_685
600556: OMIM gene: SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 2; STAT2 Gene map locus 12q13.2 (link from Ensembl BioMart) ENSP00000315768 ORTHOMCL22892 jaccard_685
600558: OMIM gene: SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4 Gene map locus 2q32.2-q32.3 (link from Ensembl BioMart) ENSP00000351255 ORTHOMCL9071 jaccard_685
600560: OMIM gene: SHC TRANSFORMING PROTEIN; SHC1 p46, INCLUDED Gene map locus 1q21 (link from Ensembl BioMart) ENSP00000312172 ORTHOMCL3378 jaccard_1184
ENSP00000336919 ORTHOMCL3378 jaccard_1184
600562: OMIM gene: CADHERIN 12; CDH12 Gene map locus 5p14-p13 (link from Ensembl BioMart) ENSP00000284308 ORTHOMCL22654 jaccard_14
600563: OMIM gene: PROSTAGLANDIN F RECEPTOR; PTGFR Gene map locus 1p31.1 (link from Ensembl BioMart) ENSP00000241946 ORTHOMCL13386 jaccard_10835
600564: OMIM gene: INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 4; ITIH4 Gene map locus 3p21.2-p14.1 (link from Ensembl BioMart) ENSP00000266041 ORTHOMCL11047 jaccard_446
600565: OMIM gene: NEUREXIN 1; NRXN1 Gene map locus 2q32 (link from Ensembl BioMart) ENSP00000341184 ORTHOMCL24872 jaccard_982
600566: OMIM gene: NEUREXIN 2; NRXN2 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000265459 ORTHOMCL288 jaccard_5
ENSP00000301894 ORTHOMCL288 jaccard_982
600567: OMIM gene: NEUREXIN 3; NRXN3 Gene map locus 14q24.3-q31.1 (link from Ensembl BioMart) ENSP00000331705 ORTHOMCL288 jaccard_5
ENSP00000281127 ORTHOMCL22042 jaccard_982
ENSP00000338349 ORTHOMCL288 jaccard_5
600568: OMIM gene: NEUROLIGIN 1; NLGN1 Gene map locus Chr.3 (link from Ensembl BioMart) ENSP00000354541 ORTHOMCL196 jaccard_69
ENSP00000353236 ORTHOMCL196 jaccard_69
600570: OMIM gene: CHLORIDE CHANNEL 2; CLCN2 Gene map locus 3q26-qter (link from Ensembl BioMart) ENSP00000265593 ORTHOMCL3836 jaccard_243
600571: OMIM gene: RE1-SILENCING TRANSCRIPTION FACTOR; REST Gene map locus Chr.4 (link from Ensembl BioMart) ENSP00000311816 ORTHOMCL12088 jaccard_14461
ENSP00000351420 ORTHOMCL12088 jaccard_14461
600572: OMIM gene: SPLICING FACTOR, ARGININE/SERINE-RICH, 7; SFRS7 Gene map locus 2p22-p21 (link from Ensembl BioMart) ENSP00000325905 ORTHOMCL1122 jaccard_0
600573: OMIM gene: TAF7 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 55-KD; TAF7 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000312709 ORTHOMCL8413 jaccard_2640
600574: OMIM gene: LEUCINE ZIPPER-LIKE TRANSCRIPTIONAL REGULATOR 1; LZTR1 Gene map locus 22q11.1-q11.2 (link from Ensembl BioMart) ENSP00000215739 ORTHOMCL9425 jaccard_8075
600576: OMIM gene: GATA-BINDING PROTEIN 4; GATA4 Gene map locus 8p23.1-p22 (link from Ensembl BioMart) ENSP00000334458 ORTHOMCL1257 jaccard_990
600577: OMIM gene: LIM HOMEOBOX GENE 3; LHX3 Gene map locus 9q34.3 (link from Ensembl BioMart) ENSP00000337790 ORTHOMCL3722 jaccard_223
ENSP00000241587 ORTHOMCL3722 jaccard_223
600579: OMIM gene: PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, O; PTPRO Gene map locus 12p13-p12 (link from Ensembl BioMart) ENSP00000281171 ORTHOMCL9286 jaccard_2
ENSP00000343434 ORTHOMCL9286 jaccard_2
600580: OMIM gene: CHLORIDE CHANNEL 3; CLCN3 Gene map locus 4q33 (link from Ensembl BioMart) ENSP00000353857 ORTHOMCL1034 jaccard_243
ENSP00000261514 ORTHOMCL1034 jaccard_243
600581: OMIM gene: INHIBITOR OF DNA BINDING 4; ID4 Gene map locus 6p22-p21.3 (link from Ensembl BioMart) ENSP00000319064 ORTHOMCL9707 jaccard_1976
600582: OMIM gene: ASPARTATE BETA-HYDROXYLASE; ASPH JUNCTIN, INCLUDED Gene map locus 8q12.1 (link from Ensembl BioMart) ENSP00000348388 ORTHOMCL12554 jaccard_2672
ENSP00000348841 ORTHOMCL12554 jaccard_2672
600583: OMIM gene: TEC PROTEIN TYROSINE KINASE; TEC Gene map locus 4p12 (link from Ensembl BioMart) ENSP00000258070 ORTHOMCL2323 jaccard_54
600584: OMIM gene: NK2, DROSOPHILA, HOMOLOG OF, E; NKX2E Gene map locus 5q34 (link from Ensembl BioMart) ENSP00000327758 ORTHOMCL10306 jaccard_8375
600585: OMIM gene: TRANSGLUTAMINASE 4; TGM4 Gene map locus 3p22-p21.33 (link from Ensembl BioMart) ENSP00000296125 ORTHOMCL22759 jaccard_399
600586: OMIM gene: EPITHELIAL CELL TRANSFORMING SEQUENCE 2 ONCOGENE; ECT2 Gene map locus 3q26.1-q26.2 (link from Ensembl BioMart) ENSP00000232458 ORTHOMCL3684 jaccard_2827