Human disease genes 604388-604504

604258-604387 --- 604505-604613

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
604388: OMIM gene: GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-4; GNG4 (link from Ensembl BioMart) ENSP00000303478 ORTHOMCL21844 jaccard_350
604389: OMIM gene: GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-10; GNG10 (link from Ensembl BioMart) ENSP00000075085 ORTHOMCL21562 jaccard_350
604390: OMIM gene: GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-11; GNG11 (link from Ensembl BioMart) ENSP00000248564 ORTHOMCL22073 jaccard_350
604391: OMIM phenotype: ATAXIA-TELANGIECTASIA-LIKE DISORDER; ATLD Gene map locus 11q21 (link from NCBI) ENSP00000325863 ORTHOMCL3388 jaccard_3302
ENSP00000326094 ORTHOMCL3388 jaccard_3302
604392: OMIM gene: ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1; AIPL1 Gene map locus 17p13.1 (link from Ensembl BioMart) ENSP00000250087 ORTHOMCL7747 jaccard_155
ENSP00000321050 ORTHOMCL7747 jaccard_155
604393: OMIM phenotype: LEBER CONGENITAL AMAUROSIS, TYPE IV; LCA4 Gene map locus 17p13.1 (link from NCBI) ENSP00000250087 ORTHOMCL7747 jaccard_155
ENSP00000321050 ORTHOMCL7747 jaccard_155
604394: OMIM gene: GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-12; GNA12 Gene map locus 19q12 (link from Ensembl BioMart) ENSP00000275364 ORTHOMCL13042 jaccard_116
604395: OMIM gene: MutL, E. COLI, HOMOLOG OF, 3; MLH3 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7, INCLUDED; HNPCC7, INCLUDED Gene map locus 14q24.3 (link from Ensembl BioMart) ENSP00000348020 ORTHOMCL8113 jaccard_7074
ENSP00000238662 ORTHOMCL8113 jaccard_7074
604396: OMIM gene: SET DOMAIN PROTEIN, BIFURCATED, 1; SETDB1 Gene map locus 1q21 (link from Ensembl BioMart) ENSP00000271640 ORTHOMCL238 jaccard_168
604397: OMIM gene: GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-14; GNA14 Gene map locus 9q21 (link from Ensembl BioMart) ENSP00000286545 ORTHOMCL24981 jaccard_116
604398: OMIM gene: MAMMAGLOBIN 2; MGB2 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000244930 ORTHOMCL23500 jaccard_11320
604399: OMIM gene: PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 1B; PPP1R1B (link from Ensembl BioMart) ENSP00000349688 ORTHOMCL12214 jaccard_2962
ENSP00000254079 ORTHOMCL12214 jaccard_2962
604402: OMIM gene: SIALYLTRANSFERASE 9; SIAT9 Gene map locus 2p11.2 (link from Ensembl BioMart) ENSP00000306247 ORTHOMCL12291 jaccard_180
604403: OMIM phenotype: FEBRILE CONVULSIONS, FAMILIAL, 3; FEB3 Gene map locus 2q24, 2q23-q24 (link from NCBI) ENSP00000303540 ORTHOMCL251 jaccard_70
604404: OMIM gene: GLYPICAN 6; GPC6 Gene map locus 13q32 (link from Ensembl BioMart) ENSP00000331270 ORTHOMCL3565 jaccard_1068
604405: OMIM gene: SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 6; SIGLEC6 SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 6, MEMBRANE-BOUND, INCLUDED Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000353071 ORTHOMCL10737 jaccard_2
ENSP00000345907 ORTHOMCL10737 jaccard_2
ENSP00000344064 ORTHOMCL10737 jaccard_2
604406: OMIM gene: GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-13; GNA13 (link from Ensembl BioMart) ENSP00000239138 ORTHOMCL13389 jaccard_116
604407: OMIM gene: LEUCINE ZIPPER/EF-HAND-CONTAINING TRANSMEMBRANE PROTEIN 1; LETM1 Gene map locus 4p16.3 (link from Ensembl BioMart) ENSP00000354784
ENSP00000305653 ORTHOMCL1221
604409: OMIM gene: GLUCOCORTICOID MODULATORY ELEMENT-BINDING PROTEIN 1; GMEB1 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000294409 ORTHOMCL2579 jaccard_2573
ENSP00000355186 ORTHOMCL2579 jaccard_2573
604410: OMIM gene: SIALIC ACID-BINDING IMMUNOGLOBULIN-LIKE LECTIN 7; SIGLEC7 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000323328 ORTHOMCL5679 jaccard_2
ENSP00000306757 ORTHOMCL5679 jaccard_2
604411: OMIM gene: INNER CENTROMERE PROTEIN; INCENP (link from Ensembl BioMart) ENSP00000278849 ORTHOMCL22270
604412: OMIM gene: T-CELL LEUKEMIA/LYMPHOMA 6; TCL6 Gene map locus 14q32.1, 14q32.1 (link from Ensembl BioMart) ENSP00000332770 ORTHOMCL9121 jaccard_6185
ENSP00000332260
ENSP00000348197 ORTHOMCL9121 jaccard_6185
ENSP00000341802 ORTHOMCL9121 jaccard_6185
604414: OMIM gene: POLYMERASE II, RNA, SUBUNIT F; POLR2F Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000215960 ORTHOMCL4053 jaccard_3358
604415: OMIM gene: SIX-TRANSMEMBRANE EPITHELIAL ANTIGEN OF PROSTATE; STEAP Gene map locus 7q21 (link from Ensembl BioMart) ENSP00000297205 ORTHOMCL19255 jaccard_1237
604417: OMIM gene: ALL1 FUSED GENE FROM CHROMOSOME 5q31 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000342806
ENSP00000265343 ORTHOMCL12324 jaccard_6955
604418: OMIM gene: GAP JUNCTION PROTEIN, BETA-6; GJB6 Gene map locus 13q12 (link from Ensembl BioMart) ENSP00000348521 ORTHOMCL15050 jaccard_152
ENSP00000241124 ORTHOMCL15050 jaccard_152
604419: OMIM gene: POLYMERASE, DNA, THETA; POLQ Gene map locus 3q13.3 (link from Ensembl BioMart) ENSP00000264233 ORTHOMCL4425 jaccard_3916
604420: OMIM gene: HEMATOPOIETICALLY EXPRESSED HOMEOBOX; HHEX Gene map locus 10q24 (link from Ensembl BioMart) ENSP00000282728 ORTHOMCL7001 jaccard_8629
604421: OMIM gene: PHOSDUCIN-LIKE; PDCL Gene map locus Chr.9 (link from Ensembl BioMart) ENSP00000259467 ORTHOMCL8893 jaccard_766
604422: OMIM gene: PANCREATIC LIPASE-RELATED PROTEIN 1; PNLIPRP1 (link from Ensembl BioMart) ENSP00000351695 ORTHOMCL14713 jaccard_300
ENSP00000298769 ORTHOMCL14713 jaccard_300
604423: OMIM gene: PANCREATIC LIPASE-RELATED PROTEIN 2; PNLIPRP2 (link from Ensembl BioMart) ENSP00000298771 ORTHOMCL21563 jaccard_300
604424: OMIM gene: HOMEODOMAIN-INTERACTING PROTEIN KINASE 3; HIPK3 Gene map locus 11p13 (link from Ensembl BioMart) ENSP00000304226 ORTHOMCL1380 jaccard_95
604426: OMIM gene: CYTOCHROME P450, SUBFAMILY IVF, POLYPEPTIDE 2; CYP4F2 (link from Ensembl BioMart) ENSP00000221700 ORTHOMCL1143 jaccard_9
604427: OMIM gene: SODIUM CHANNEL, VOLTAGE-GATED, TYPE X, ALPHA SUBUNIT; SCN10A Gene map locus 3p24.2-p22 (link from Ensembl BioMart) ENSP00000329956 ORTHOMCL251 jaccard_70
604428: OMIM gene: PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 1; PRRG1 (link from Ensembl BioMart) ENSP00000342983 ORTHOMCL2161 jaccard_1346
604429: OMIM gene: PROLINE-RICH GAMMA-CARBOXYGLUTAMIC ACID PROTEIN 2; PRRG2 (link from Ensembl BioMart) ENSP00000246794 ORTHOMCL21625 jaccard_1346
604430: OMIM gene: GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-7; GNG7 (link from Ensembl BioMart) ENSP00000326294 ORTHOMCL1523 jaccard_350
604433: OMIM gene: POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 3; KCNE3 Gene map locus 11q13-q14 (link from Ensembl BioMart) ENSP00000310557 ORTHOMCL24610 jaccard_10586
604434: OMIM gene: KALLIKREIN 11; KLK11 (link from Ensembl BioMart) ENSP00000324414 ORTHOMCL13160 jaccard_10
ENSP00000324269 ORTHOMCL13160 jaccard_10
604436: OMIM gene: PROLINE SYNTHETASE COTRANSCRIBED, BACTERIA, HOMOLOG OF; PROSC Gene map locus 8p11.2 (link from Ensembl BioMart) ENSP00000333551 ORTHOMCL3088 jaccard_2880
604437: OMIM gene: SOLUTE CARRIER FAMILY 38 (AMINO ACID TRANSPORTER), MEMBER 3; SLC38A3 Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000344151 ORTHOMCL366 jaccard_79
604438: OMIM gene: KALLIKREIN 7; KLK7 (link from Ensembl BioMart) ENSP00000304791 ORTHOMCL12218 jaccard_10
604439: OMIM gene: GRB2-ASSOCIATED BINDING PROTEIN 1; GAB1 Gene map locus 4q13.1 (link from Ensembl BioMart) ENSP00000262994 ORTHOMCL10874 jaccard_1977
ENSP00000262995 ORTHOMCL10874 jaccard_1977
604440: OMIM gene: CELL DEATH-INDUCING DFFA-LIKE EFFECTOR A; CIDEA (link from Ensembl BioMart) ENSP00000320209 ORTHOMCL9662 jaccard_896
ENSP00000339344 ORTHOMCL9662 jaccard_896
604441: OMIM gene: CELL DEATH-INDUCING DFFA-LIKE EFFECTOR B (link from Ensembl BioMart) ENSP00000258807 ORTHOMCL7299 jaccard_896
604444: OMIM gene: PUTATIVE TRANSMEMBRANE PROTEIN (link from Ensembl BioMart) ENSP00000224324 ORTHOMCL18401 jaccard_12713
604445: OMIM gene: PROTEASE INHIBITOR 13; PI13 Gene map locus 18q21.3 (link from Ensembl BioMart) ENSP00000341584 ORTHOMCL16765 jaccard_51
604446: OMIM gene: PHOSPHOTRIESTERASE-RELATED PROTEIN; PTER Gene map locus 10p12 (link from Ensembl BioMart) ENSP00000342390 ORTHOMCL12683 jaccard_7120
ENSP00000298942 ORTHOMCL12683 jaccard_7120
604447: OMIM gene: GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-5; GNB5 Gene map locus Chr.15 (link from Ensembl BioMart) ENSP00000261837 jaccard_17
604448: OMIM gene: PLECKSTRIN HOMOLOGY, SEC7, AND COILED-COIL DOMAINS PROTEIN-BINDING PROTEIN Gene map locus 2q11.2 (link from Ensembl BioMart) ENSP00000264192 ORTHOMCL8423 jaccard_3274
604449: OMIM gene: PROTEASOME 26S SUBUNIT, NON-ATPase, 11; PSMD11 (link from Ensembl BioMart) ENSP00000261712 ORTHOMCL3199 jaccard_1260
604450: OMIM gene: PROTEASOME 26S SUBUNIT, NON-ATPase, 12; PSMD12 (link from Ensembl BioMart) ENSP00000348442 ORTHOMCL2570 jaccard_1458
ENSP00000349667 jaccard_1458
604452: OMIM gene: PROTEASOME 26S SUBUNIT, NON-ATPase, 5; PSMD5 Gene map locus Chr.9 (link from Ensembl BioMart) ENSP00000210313 ORTHOMCL5924 jaccard_4350
604453: OMIM gene: NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 2; NR5A2 Gene map locus 1q32.1 (link from Ensembl BioMart) ENSP00000349064 ORTHOMCL4234 jaccard_18
ENSP00000236914 ORTHOMCL4234 jaccard_18
604455: OMIM gene: SARCOSINE DEHYDROGENASE; SARDH Gene map locus 9q33-q34 (link from Ensembl BioMart) ENSP00000302152 ORTHOMCL8272 jaccard_1662
604456: OMIM gene: INTERFERON-INDUCED TRANSMEMBRANE PROTEIN 1; IFITM1 Gene map locus Chr.11 (link from Ensembl BioMart) ENSP00000330825 ORTHOMCL3057 jaccard_1509
604457: OMIM gene: SP110 NUCLEAR BODY PROTEIN; SP110 INTERFERON-INDUCED PROTEIN 41, INCLUDED; IFI41, INCLUDED Gene map locus 2q37.1 (link from Ensembl BioMart) ENSP00000258382 ORTHOMCL3113 jaccard_1186
ENSP00000351488 ORTHOMCL3113 jaccard_1186
ENSP00000258381 ORTHOMCL3113 jaccard_1186
604459: OMIM gene: INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 3; IRAK3 (link from Ensembl BioMart) ENSP00000261233 ORTHOMCL6975 jaccard_43
604460: OMIM gene: FAS-ASSOCIATED FACTOR 1; FAF1 (link from Ensembl BioMart) ENSP00000331043 ORTHOMCL4660 jaccard_980
ENSP00000332342 ORTHOMCL4660 jaccard_980
604462: OMIM phenotype: SEMAPHORIN 4C; SEMA4C (link from Ensembl BioMart) ENSP00000306844 ORTHOMCL9176 jaccard_106
604463: OMIM gene: CD160 ANTIGEN; CD160 (link from Ensembl BioMart) ENSP00000235933 ORTHOMCL18510 jaccard_9802
604464: OMIM gene: INTERSECTIN 2; ITSN2 Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000347244 ORTHOMCL1928 jaccard_4220
ENSP00000354561 ORTHOMCL1928 jaccard_4220
604465: OMIM gene: SH3 DOMAIN, GRB2-LIKE, 2; SH3GL2 Gene map locus 9p22 (link from Ensembl BioMart) ENSP00000326735 ORTHOMCL2954 jaccard_603
604466: OMIM gene: METHYLTRANSFERASE-LIKE 1; METTL1 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000314441 ORTHOMCL4914 jaccard_3416
ENSP00000257848
604467: OMIM gene: MONOCYTE-TO-MACROPHAGE DIFFERENTIATION-ASSOCIATED PROTEIN; MMD (link from Ensembl BioMart) ENSP00000262065 ORTHOMCL4349 jaccard_3192
604468: OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 6; MAP3K6 (link from Ensembl BioMart) ENSP00000350195 ORTHOMCL245 jaccard_1212
604469: OMIM gene: SEC10, S. CEREVISIAE, HOMOLOG-LIKE 1; SEC10L1 (link from Ensembl BioMart) ENSP00000342100 ORTHOMCL3701 jaccard_3037
604470: OMIM gene: CD2 ANTIGEN-BINDING PROTEIN 2; CD2BP2 (link from Ensembl BioMart) ENSP00000304903 ORTHOMCL4988 jaccard_4444
604471: OMIM gene: SOLUTE CARRIER FAMILY 1 (GLUTAMATE TRANSPORTER), MEMBER 7; SLC1A7 (link from Ensembl BioMart) ENSP00000287857 ORTHOMCL10033 jaccard_453
604472: OMIM gene: TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 13; TNFSF13 (link from Ensembl BioMart) ENSP00000314455 ORTHOMCL23799 jaccard_3330
ENSP00000343505 ORTHOMCL23799 jaccard_3330
604473: OMIM gene: GLUTAMATE RECEPTOR, METABOTROPIC, 1; GRM1 Gene map locus 6q24 (link from Ensembl BioMart) ENSP00000282753 ORTHOMCL1242 jaccard_15
604475: OMIM gene: RETICULON 4; RTN4 NOGOA, INCLUDED Gene map locus 2p14-p13 (link from Ensembl BioMart) ENSP00000349944 ORTHOMCL437 jaccard_9102
ENSP00000337838 ORTHOMCL437 jaccard_9102
ENSP00000322147 ORTHOMCL437 jaccard_369
ENSP00000346465 ORTHOMCL437 jaccard_9102
ENSP00000350365 ORTHOMCL437 jaccard_369
604477: OMIM gene: CHROMOBOX HOMOLOG 3; CBX3 (link from Ensembl BioMart) ENSP00000336687 ORTHOMCL6167 jaccard_729
604478: OMIM gene: CHROMOBOX HOMOLOG 5; CBX5 (link from Ensembl BioMart) ENSP00000209875 ORTHOMCL6551 jaccard_729
604479: OMIM gene: SIRTUIN 1; SIRT1 Gene map locus Chr.10 (link from Ensembl BioMart) ENSP00000212015 ORTHOMCL6475 jaccard_5900
604480: OMIM gene: SIRTUIN 2; SIRT2 Gene map locus 19q (link from Ensembl BioMart) ENSP00000249396 ORTHOMCL8223 jaccard_387
604481: OMIM gene: SIRTUIN 3; SIRT3 Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000270025 ORTHOMCL8187 jaccard_387
604482: OMIM gene: SIRTUIN 4; SIRT4 Gene map locus 12q (link from Ensembl BioMart) ENSP00000202967 ORTHOMCL1115 jaccard_387
604483: OMIM gene: SIRTUIN 5; SIRT5 Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000262080 ORTHOMCL9113 jaccard_387
ENSP00000340183 ORTHOMCL9113 jaccard_387
604485: OMIM gene: NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 3; NR2E3 Gene map locus 15q23 (link from Ensembl BioMart) ENSP00000317199 ORTHOMCL5144 jaccard_18
604486: OMIM gene: PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, MITOCHONDRIAL; PPIF Gene map locus 10q22-q23 (link from Ensembl BioMart) ENSP00000225174 ORTHOMCL637 jaccard_98
604487: OMIM gene: OTOGELIN; OTOG Gene map locus 11p14.3 (link from Ensembl BioMart) ENSP00000341666 ORTHOMCL16272 jaccard_5
604488: OMIM gene: TITIN-CAP; TCAP Gene map locus 17q12 (link from Ensembl BioMart) ENSP00000312624 ORTHOMCL16899 jaccard_7822
604489: OMIM gene: ALPHA-METHYLACYL-CoA RACEMASE; AMACR ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY, INCLUDED Gene map locus 5p13.2-q11.1 (link from Ensembl BioMart) ENSP00000334424 ORTHOMCL9466 jaccard_2945
ENSP00000230686
604490: OMIM gene: SACSIN; SACS Gene map locus 13q12 (link from Ensembl BioMart) ENSP00000281578 ORTHOMCL7104 jaccard_4676
604491: OMIM gene: CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE B; CBLB Gene map locus 3q (link from Ensembl BioMart) ENSP00000264122 ORTHOMCL2190 jaccard_1717
604492: OMIM gene: VOLTAGE-DEPENDENT ANION CHANNEL 1; VDAC1 VDAC DEFICIENCY, INCLUDED Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000265333 ORTHOMCL13870 jaccard_834
604493: OMIM gene: GAP JUNCTION PROTEIN, BETA-5; GJB5 Gene map locus 1p35.1 (link from Ensembl BioMart) ENSP00000340811 ORTHOMCL23542 jaccard_152
604494: OMIM gene: INTERLEUKIN 18 RECEPTOR 1; IL18R1 Gene map locus 2q12 (link from Ensembl BioMart) ENSP00000233957 ORTHOMCL17042 jaccard_1009
604495: OMIM gene: NUCLEAR FACTOR OF KAPPA LIGHT CHAIN GENE ENHANCER IN B CELLS INHIBITOR, BETA; NFKBIB Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000312988 ORTHOMCL19912 jaccard_11
604496: OMIM gene: I-KAPPA-B-INTERACTING RAS-LIKE PROTEIN 1 (link from Ensembl BioMart) ENSP00000354177 ORTHOMCL9457 jaccard_8
604497: OMIM gene: I-KAPPA-B-INTERACTING RAS-LIKE PROTEIN 2 (link from Ensembl BioMart) ENSP00000312773 ORTHOMCL8660 jaccard_8
604498: OMIM phenotype: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT Gene map locus 1p34 (link from NCBI) ENSP00000236056 ORTHOMCL11530 jaccard_6983
604500: OMIM gene: THYROID HORMONE RECEPTOR INTERACTOR 3; TRIP3 (link from Ensembl BioMart) ENSP00000225410 ORTHOMCL6059 jaccard_6083
604501: OMIM gene: THYROID HORMONE RECEPTOR INTERACTOR 4; TRIP4 (link from Ensembl BioMart) ENSP00000261884 ORTHOMCL2659 jaccard_2946
604502: OMIM gene: HIGH MOBILITY GROUP NUCLEOSOMAL BINDING PROTEIN 3; HMGN3 Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000275036 jaccard_440
ENSP00000341267 ORTHOMCL12715 jaccard_440
ENSP00000340007 ORTHOMCL12715 jaccard_440
604503: OMIM gene: THYROID HORMONE RECEPTOR INTERACTOR 8; TRIP8 (link from Ensembl BioMart) ENSP00000335929 ORTHOMCL431 jaccard_744
604504: OMIM gene: THYROID HORMONE RECEPTOR INTERACTOR 10; TRIP10 (link from Ensembl BioMart) ENSP00000320493 ORTHOMCL12959 jaccard_139