Human disease genes 606822-606939

606707-606821 --- 606940-607054

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
606822: OMIM gene: PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE Gene map locus 1p34-p33 (link from Ensembl BioMart) ENSP00000319315 ORTHOMCL10937 jaccard_6018
606823: OMIM gene: TUMOR ENDOTHELIAL MARKER 5 Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000021763 ORTHOMCL6344 jaccard_2841
606824: OMIM phenotype: GLUCOSE/GALACTOSE MALABSORPTION; GGM Gene map locus 22q13.1 (link from NCBI) ENSP00000266088 ORTHOMCL15778 jaccard_210
606825: OMIM gene: TUMOR ENDOTHELIAL MARKER 6 Gene map locus Chr.7 (link from Ensembl BioMart) ENSP00000312143 ORTHOMCL5265 jaccard_1163
606826: OMIM gene: TUMOR ENDOTHELIAL MARKER 7 Gene map locus Chr.17 (link from Ensembl BioMart) ENSP00000323927 ORTHOMCL23740 jaccard_1285
606827: OMIM gene: TUMOR ENDOTHELIAL MARKER 7-RELATED PROTEIN Gene map locus Chr.10 (link from Ensembl BioMart) ENSP00000277585 ORTHOMCL3679 jaccard_1285
606828: OMIM gene: N-ACETYLGLUCOSAMINE KINASE; NAGK Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000244204 ORTHOMCL4703 jaccard_3928
606829: OMIM gene: FRDA GENE; FRDA Gene map locus 9q13 (link from Ensembl BioMart) ENSP00000297735 ORTHOMCL5168 jaccard_3265
606830: OMIM gene: ATP/GTP-BINDING PROTEIN 1; AGTPBP1 Gene map locus Chr.9 (link from Ensembl BioMart) ENSP00000338512 ORTHOMCL3662 jaccard_676
606831: OMIM gene: CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 12; CARD12 Gene map locus 2p22-p21 (link from Ensembl BioMart) ENSP00000354159 ORTHOMCL15239 jaccard_2822
606832: OMIM gene: ADIPOCYTE-DERIVED LEUCINE AMINOPEPTIDASE Gene map locus 5q15 (link from Ensembl BioMart) ENSP00000296754 ORTHOMCL24198 jaccard_151
606833: OMIM gene: MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 3; MLL3 Gene map locus 7q36 (link from Ensembl BioMart) ENSP00000353218 ORTHOMCL733 jaccard_168
ENSP00000262189 ORTHOMCL733 jaccard_168
606834: OMIM gene: MYELOID/LYMPHOID OR MIXED-LINEAGE LEUKEMIA 4 Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000222270 ORTHOMCL775 jaccard_168
606836: OMIM gene: GLUCOSAMINYL (N-ACETYL) TRANSFERASE 3, MUCIN-TYPE; GCNT3 Gene map locus 15q21.3 (link from Ensembl BioMart) ENSP00000267857 ORTHOMCL15665 jaccard_349
606837: OMIM gene: RB1-INDUCIBLE COILED-COIL 1; RB1CC1 Gene map locus 8q11 (link from Ensembl BioMart) ENSP00000025008 ORTHOMCL3476 jaccard_3
606838: OMIM gene: PYD AND CARD DOMAIN-CONTAINING PROTEIN; PYCARD Gene map locus 16p12-p11.2 (link from Ensembl BioMart) ENSP00000348263 ORTHOMCL8260 jaccard_4714
ENSP00000247470 ORTHOMCL8260 jaccard_4714
ENSP00000340441 ORTHOMCL8260 jaccard_4714
606839: OMIM gene: MUCIN AND CADHERIN-LIKE; MUCDHL Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000345726 ORTHOMCL8615
ENSP00000326527 ORTHOMCL8615
ENSP00000351118 ORTHOMCL8615
606841: OMIM gene: DEATH EFFECTOR DOMAIN-CONTAINING PROTEIN; DEDD Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000344245 ORTHOMCL12686 jaccard_2484
606843: OMIM phenotype: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 Gene map locus 20q12-q13.2 (link from NCBI) ENSP00000322428 ORTHOMCL8569 jaccard_961
ENSP00000279061 ORTHOMCL8569 jaccard_961
606844: OMIM gene: ALMS1 GENE; ALMS1 Gene map locus 2p13 (link from Ensembl BioMart) ENSP00000264448 ORTHOMCL22617
606845: OMIM gene: PDZ PROTEIN INTERACTING SPECIFICALLY WITH TC10 FIG/ROS1 FUSION GENE, INCLUDED Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000342067 ORTHOMCL7732 jaccard_4012
606846: OMIM gene: SET AND MYND DOMAIN-CONTAINING PROTEIN 1; SMYD1 (link from Ensembl BioMart) ENSP00000295833 ORTHOMCL9928 jaccard_790
606847: OMIM gene: TCOF1 GENE Gene map locus 5q32-q33.1 (link from Ensembl BioMart) ENSP00000325223 ORTHOMCL11308 jaccard_6848
ENSP00000314349 ORTHOMCL11308 jaccard_6848
606848: OMIM gene: NEVER IN MITOSIS GENE A-RELATED KINASE 7; NEK7 Gene map locus 1q31.3 (link from Ensembl BioMart) ENSP00000281083 ORTHOMCL7894 jaccard_2842
606849: OMIM gene: UBIQUITIN-LIKE 5; UBL5 Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000351492 ORTHOMCL3864 jaccard_2611
606850: OMIM gene: MIRROR-IMAGE POLYDACTYLY GENE 1; MIPOL1 Gene map locus 14q13 (link from Ensembl BioMart) ENSP00000333539 ORTHOMCL18576
606853: OMIM gene: ATPASE, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 2; ATP6V1G2 Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000328075 ORTHOMCL1986 jaccard_1448
ENSP00000302194 jaccard_1448
606855: OMIM gene: RELAXIN 3; RLN3 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000307040 ORTHOMCL14976 jaccard_2812
606857: OMIM gene: GLUTAMATE-CYSTEINE LIGASE, CATALYTIC SUBUNIT; GCLC MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, INCLUDED Gene map locus 6p12 (link from Ensembl BioMart) ENSP00000229416 ORTHOMCL4779 jaccard_4603
606858: OMIM phenotype: PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION Gene map locus 8p23 (link from NCBI) ENSP00000342924 ORTHOMCL24767 jaccard_11019
606860: OMIM gene: COMPLEMENT COMPONENT 1 INHIBITOR; C1NH Gene map locus 11q11-q13.1 (link from Ensembl BioMart) ENSP00000278407 ORTHOMCL17887 jaccard_51
606861: OMIM gene: PROSTATE- AND TESTIS-EXPRESSED GENE Gene map locus 11q24 (link from Ensembl BioMart) ENSP00000307164
606862: OMIM gene: OSTEOCLAST-ASSOCIATED RECEPTOR Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000304523 ORTHOMCL10242 jaccard_2
ENSP00000348927 ORTHOMCL10242 jaccard_2
ENSP00000351145 ORTHOMCL10242 jaccard_2
ENSP00000352671 ORTHOMCL10242 jaccard_2
606863: OMIM gene: THYMUS HIGH MOBILITY GROUP BOX PROTEIN, MOUSE, HOMOLOG OF Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000354842 ORTHOMCL16369 jaccard_1153
606865: OMIM gene: FUCOSYLTRANSFERASE 9; FUT9 Gene map locus 6q16 (link from Ensembl BioMart) ENSP00000302599 ORTHOMCL11821 jaccard_583
606866: OMIM gene: MITOCHONDRIAL RIBOSOMAL PROTEIN L49; MRPL49 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000279242 ORTHOMCL5190 jaccard_3554
606867: OMIM gene: GOLGI REASSEMBLY STACKING PROTEIN 1; GORASP1 Gene map locus Chr.3 (link from Ensembl BioMart) ENSP00000313869 ORTHOMCL10140 jaccard_4348
606868: OMIM gene: HOMEODOMAIN-INTERACTING PROTEIN KINASE 2; HIPK2 Gene map locus 7q33-q34 (link from Ensembl BioMart) ENSP00000263551 ORTHOMCL759 jaccard_95
606869: OMIM gene: HEXOSAMINIDASE A; HEXA Gene map locus 15q23-q24 (link from Ensembl BioMart) ENSP00000268097 ORTHOMCL1012 jaccard_1319
606870: OMIM gene: JUNCTIONAL ADHESION MOLECULE 2; JAM2 Gene map locus 21q21.2 (link from Ensembl BioMart) ENSP00000318416 ORTHOMCL16187 jaccard_303
606871: OMIM gene: JUNCTIONAL ADHESION MOLECULE 3; JAM3 Gene map locus 11q25 (link from Ensembl BioMart) ENSP00000299106 ORTHOMCL5199 jaccard_303
606872: OMIM gene: HAKAI, MOUSE, HOMOLOG OF Gene map locus Chr.7 (link from Ensembl BioMart) ENSP00000222597 ORTHOMCL3371 jaccard_0
606873: OMIM gene: HEXOSAMINIDASE B; HEXB Gene map locus 5q13 (link from Ensembl BioMart) ENSP00000261416 ORTHOMCL1012 jaccard_1319
606876: OMIM gene: PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, BETA; PITPNB Gene map locus Chr.22 (link from Ensembl BioMart) ENSP00000334738 ORTHOMCL3769 jaccard_1063
606877: OMIM gene: ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER C; ANP32C Gene map locus Chr.4 (link from Ensembl BioMart) ENSP00000329250 jaccard_823
606878: OMIM gene: ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER D; ANP32D Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000266594 jaccard_823
606879: OMIM gene: PHOSPHOGLYCERATE DEHYDROGENASE; PHGDH Gene map locus 1q12 (link from Ensembl BioMart) ENSP00000263167 ORTHOMCL2845 jaccard_263
606880: OMIM gene: CASPASE 8-ASSOCIATED PROTEIN 2; CASP8AP2 Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000237177 ORTHOMCL13196
606881: OMIM gene: FORMIN HOMOLOGY-2 DOMAIN-CONTAINING PROTEIN 1; FHOD1 Gene map locus 16q22 (link from Ensembl BioMart) ENSP00000258201 ORTHOMCL3537 jaccard_131
606882: OMIM gene: ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B Gene map locus 13q14.3-q21.1 (link from Ensembl BioMart) ENSP00000242839 ORTHOMCL817 jaccard_30
ENSP00000342559 ORTHOMCL817 jaccard_30
606883: OMIM gene: INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4; IRAK4 Gene map locus 12q12 (link from Ensembl BioMart) ENSP00000349096 ORTHOMCL14962 jaccard_43
606884: OMIM gene: RNA-BINDING MOTIF PROTEIN 5; RBM5 Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000343054 ORTHOMCL486 jaccard_643
606885: OMIM gene: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS Gene map locus 12q22-qter (link from Ensembl BioMart) ENSP00000242592 ORTHOMCL12121 jaccard_236
606886: OMIM gene: RNA-BINDING MOTIF PROTEIN 6; RBM6 Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000266022 ORTHOMCL14607 jaccard_643
606887: OMIM gene: SULFITE OXIDASE; SUOX Gene map locus Chr.12 (link from Ensembl BioMart) ENSP00000348440 ORTHOMCL5794 jaccard_3461
ENSP00000266971 ORTHOMCL5794 jaccard_3461
606888: OMIM gene: CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 6; CHRNA6 (link from Ensembl BioMart) ENSP00000276410 ORTHOMCL14542 jaccard_32
606889: OMIM phenotype: ALZHEIMER DISEASE 4 Gene map locus 1q31-q42 (link from NCBI) ENSP00000272148 ORTHOMCL1733 jaccard_1503
606890: OMIM gene: GALACTOSYLCERAMIDASE; GALC Gene map locus 14q31 (link from Ensembl BioMart) ENSP00000261304 ORTHOMCL7728 jaccard_4789
606891: OMIM gene: Fc RECEPTOR HOMOLOG EXPRESSED IN B CELLS Gene map locus 1q23 (link from Ensembl BioMart) ENSP00000236938 ORTHOMCL24942 jaccard_14016
606892: OMIM gene: SYNTAXIN 12; STX12 (link from Ensembl BioMart) ENSP00000236419 ORTHOMCL8632 jaccard_145
606897: OMIM gene: LYSOSOMAL TRAFFICKING REGULATOR; LYST Gene map locus 1q42.1-q42.2 (link from Ensembl BioMart) ENSP00000352285 ORTHOMCL6706 jaccard_5590
ENSP00000272000 ORTHOMCL6706 jaccard_5590
606898: OMIM gene: CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-6 SUBUNIT; CACNG6 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000252729 ORTHOMCL7105 jaccard_3256
ENSP00000319135 ORTHOMCL7105 jaccard_3256
ENSP00000319097 ORTHOMCL7105 jaccard_3256
606899: OMIM gene: CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-7 SUBUNIT; CACNG7 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000222212 ORTHOMCL11116 jaccard_749
606900: OMIM gene: CALCIUM CHANNEL, VOLTAGE-DEPENDENT, GAMMA-8 SUBUNIT; CACNG8 Gene map locus 19q13.4 (link from Ensembl BioMart) ENSP00000270458 ORTHOMCL13340 jaccard_749
606902: OMIM gene: PYGOPUS, DROSOPHILA, HOMOLOG OF, 1 (link from Ensembl BioMart) ENSP00000302327 ORTHOMCL18928 jaccard_9219
606903: OMIM gene: PYGOPUS, DROSOPHILA, HOMOLOG OF, 2 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000295526 ORTHOMCL16502 jaccard_0
606904: OMIM phenotype: EPILEPSY, JUVENILE MYOCLONIC; JME Gene map locus 5q34-q35, 3q26-qter, 2q22-q23 (link from NCBI) ENSP00000023897 ORTHOMCL16582 jaccard_32
ENSP00000263044 ORTHOMCL11730 jaccard_3377
ENSP00000343563 ORTHOMCL2680 jaccard_377
ENSP00000265593 ORTHOMCL3836 jaccard_243
606905: OMIM gene: PHOSPHATIDYLINOSITOL 3,4,5-TRISPHOSPHATE-DEPENDENT RAC EXCHANGER 1 Gene map locus 20q13.13 (link from Ensembl BioMart) ENSP00000262976 ORTHOMCL7029 jaccard_5303
606906: OMIM gene: FTSJ, E. COLI, HOMOLOG OF, 2; FTSJ2 Gene map locus 7p22 (link from Ensembl BioMart) ENSP00000327660 ORTHOMCL3846 jaccard_1275
606908: OMIM gene: ZINC FINGER PROTEIN 289, ID1-REGULATED; ZNF289 Gene map locus Chr.11 (link from Ensembl BioMart) ENSP00000327309 ORTHOMCL1162 jaccard_802
606909: OMIM gene: VESICLE-ASSOCIATED MEMBRANE PROTEIN 4; VAMP4 Gene map locus 1q24-q25 (link from Ensembl BioMart) ENSP00000236192 ORTHOMCL568 jaccard_360
606910: OMIM gene: BCL2-LIKE 10; BCL2L10 Gene map locus 15q21 (link from Ensembl BioMart) ENSP00000260442 ORTHOMCL22240 jaccard_13266
606911: OMIM gene: SECRETORY CARRIER MEMBRANE PROTEIN 1; SCAMP1 Gene map locus 5q13.3-q14.1 (link from Ensembl BioMart) ENSP00000342940 ORTHOMCL2396 jaccard_882
606912: OMIM gene: SECRETORY CARRIER MEMBRANE PROTEIN 2; SCAMP2 Gene map locus Chr.15 (link from Ensembl BioMart) ENSP00000268099 ORTHOMCL2396 jaccard_882
606913: OMIM gene: SECRETORY CARRIER MEMBRANE PROTEIN 3; SCAMP3 Gene map locus 1q21 (link from Ensembl BioMart) ENSP00000235157 ORTHOMCL6182 jaccard_882
ENSP00000307275 ORTHOMCL6182 jaccard_882
606914: OMIM gene: PROTEIN KINASE, cAMP-DEPENDENT CATALYTIC, INHIBITOR BETA; PKIB Gene map locus Chr.6 (link from Ensembl BioMart) ENSP00000258014 ORTHOMCL8291 jaccard_2476
ENSP00000346227 ORTHOMCL8291 jaccard_2476
606915: OMIM gene: G PROTEIN-COUPLED RECEPTOR 63; GPR63 Gene map locus 6q16.1-q16.3 (link from Ensembl BioMart) ENSP00000229955 ORTHOMCL16038 jaccard_5679
606916: OMIM gene: G PROTEIN-COUPLED RECEPTOR 61; GPR61 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000286603 ORTHOMCL7049 jaccard_19
606917: OMIM gene: G PROTEIN-COUPLED RECEPTOR 62; GPR62 Gene map locus 3p21.1 (link from Ensembl BioMart) ENSP00000319250 ORTHOMCL17752
606918: OMIM gene: GOLGI AUTOANTIGEN, GOLGIN SUBFAMILY A, 5; GOLGA5 PTC5 CHIMERIC ONCOGENE, INCLUDED Gene map locus 14q (link from Ensembl BioMart) ENSP00000163416 ORTHOMCL6558 jaccard_9786
606920: OMIM gene: LAG1, S. CEREVISIAE, HOMOLOG OF, 2; LASS2 Gene map locus 1q11 (link from Ensembl BioMart) ENSP00000271688 ORTHOMCL11427 jaccard_365
ENSP00000355020 ORTHOMCL655 jaccard_365
ENSP00000337842 ORTHOMCL655 jaccard_365
606921: OMIM gene: G PROTEIN-COUPLED RECEPTOR 78; GPR78 Gene map locus Chr.4 (link from Ensembl BioMart) ENSP00000285622 jaccard_19
606922: OMIM gene: G PROTEIN-COUPLED RECEPTOR 80; GPR80 Gene map locus Chr.13 (link from Ensembl BioMart) ENSP00000298440 ORTHOMCL7443 jaccard_6
606923: OMIM gene: G PROTEIN-COUPLED RECEPTOR 81; GPR81 Gene map locus 12q24.31 (link from Ensembl BioMart) ENSP00000349478 ORTHOMCL20764 jaccard_6
606924: OMIM gene: G PROTEIN-COUPLED RECEPTOR 82; GPR82 Gene map locus Chr.1 (link from Ensembl BioMart) ENSP00000303549 ORTHOMCL18396 jaccard_6
606925: OMIM gene: G PROTEIN-COUPLED RECEPTOR 103; GPR103 (link from Ensembl BioMart) ENSP00000335610 ORTHOMCL6926 jaccard_6
606926: OMIM gene: G PROTEIN-COUPLED RECEPTOR 92; GPR92 Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000327875 jaccard_6
606927: OMIM gene: TRACE AMINE-ASSOCIATED RECEPTOR 8; TAAR8 Gene map locus 6q23.2 (link from Ensembl BioMart) ENSP00000275200 ORTHOMCL10752 jaccard_19
606929: OMIM gene: THO COMPLEX, SUBUNIT 3; THOC3 Gene map locus Chr.5 (link from Ensembl BioMart) ENSP00000265097 ORTHOMCL5326 jaccard_17
606930: OMIM gene: THO COMPLEX, SUBUNIT 1; THOC1 Gene map locus Chr.18 (link from Ensembl BioMart) ENSP00000261600 ORTHOMCL7390 jaccard_5196
606931: OMIM gene: VACUOLAR PROTEIN SORTING 35, YEAST, HOMOLOG OF; VPS35 (link from Ensembl BioMart) ENSP00000299138 ORTHOMCL2205 jaccard_2712
606932: OMIM gene: VACUOLAR PROTEIN SORTING 29, YEAST, HOMOLOG OF; VPS29 (link from Ensembl BioMart) ENSP00000353786 ORTHOMCL1775 jaccard_1995
606933: OMIM gene: TYROSINASE; TYR Gene map locus 11q14-q21 (link from Ensembl BioMart) ENSP00000263321 ORTHOMCL17125 jaccard_3211
606934: OMIM gene: COMPLEX I INTERMEDIATE-ASSOCIATED PROTEIN 30 Gene map locus 15q13.3 (link from Ensembl BioMart) ENSP00000260361 ORTHOMCL6066 jaccard_4116
606935: OMIM gene: SPLICING FACTOR, 45-KD (link from Ensembl BioMart) ENSP00000338287 ORTHOMCL6807 jaccard_5139
606936: OMIM gene: TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 4; TRPM4 Gene map locus 19q13.32 (link from Ensembl BioMart) ENSP00000252826 ORTHOMCL527 jaccard_183
606938: OMIM gene: UROPORPHYRINOGEN III SYNTHASE; UROS Gene map locus 10q25.2-q26.3 (link from Ensembl BioMart) ENSP00000344508 ORTHOMCL6782 jaccard_4016
606939: OMIM gene: ATPASE, H+ TRANSPORTING, LYSOSOMAL, 56/58-KD, V1 SUBUNIT B, ISOFORM 2; ATP6V1B2 Gene map locus Chr.8 (link from Ensembl BioMart) ENSP00000276390 ORTHOMCL1309 jaccard_286