Human disease genes 600861-600984

600737-600860 --- 600985-601123

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
600861: OMIM gene: REGULATOR OF G PROTEIN SIGNALING 2; RGS2 Gene map locus 1q31 (link from Ensembl BioMart) ENSP00000235382 ORTHOMCL23194 jaccard_202
600862: OMIM gene: HIV-1 REV-BINDING PROTEIN; HRB Gene map locus 2q36 (link from Ensembl BioMart) ENSP00000312059 ORTHOMCL4286 jaccard_940
600863: OMIM gene: CASEIN KINASE I, EPSILON; CSNK1E Gene map locus 22q12-q13 (link from Ensembl BioMart) ENSP00000352929 ORTHOMCL259 jaccard_65
600864: OMIM gene: CASEIN KINASE I, DELTA; CSNK1D Gene map locus 17q25 (link from Ensembl BioMart) ENSP00000269361 ORTHOMCL259 jaccard_65
ENSP00000324464 ORTHOMCL259 jaccard_65
600865: OMIM gene: RETICULON 1; RTN1 Gene map locus 14q21-q22 (link from Ensembl BioMart) ENSP00000267484 ORTHOMCL437 jaccard_13162
ENSP00000340716 ORTHOMCL437 jaccard_369
600866: OMIM gene: PROGRAMMED CELL DEATH 2; PDCD2 Gene map locus 6q27 (link from Ensembl BioMart) ENSP00000167218 ORTHOMCL7581 jaccard_2713
600867: OMIM gene: SIGNAL SEQUENCE RECEPTOR, BETA; SSR2 Gene map locus 1q21-q23 (link from Ensembl BioMart) ENSP00000295702 ORTHOMCL6534 jaccard_3780
600868: OMIM gene: SIGNAL SEQUENCE RECEPTOR, ALPHA; SSR1 (link from Ensembl BioMart) ENSP00000244763 ORTHOMCL6721 jaccard_4241
600869: OMIM gene: G PROTEIN-COUPLED RECEPTOR KINASE 6; GPRK6 Gene map locus 5q35 (link from Ensembl BioMart) ENSP00000347655 ORTHOMCL3427 jaccard_29
ENSP00000348230 ORTHOMCL3427 jaccard_29
600870: OMIM gene: G PROTEIN-COUPLED RECEPTOR KINASE 5; GPRK5 Gene map locus 10q24-qter (link from Ensembl BioMart) ENSP00000354454 ORTHOMCL3427 jaccard_29
600871: OMIM gene: GROWTH FACTOR-INDEPENDENT 1; GFI1 Gene map locus 1p22 (link from Ensembl BioMart) ENSP00000294702 ORTHOMCL3168 jaccard_11141
ENSP00000351079 ORTHOMCL3168 jaccard_11141
600873: OMIM gene: CHITOBIASE, DI-N-ACETYL- Gene map locus 1p22 (link from Ensembl BioMart) ENSP00000318038 ORTHOMCL10367 jaccard_6598
600874: OMIM gene: GUANINE NUCLEOTIDE-BINDING PROTEIN, GAMMA-5; GNG5 Gene map locus 1p22 (link from Ensembl BioMart) ENSP00000309679 ORTHOMCL9913 jaccard_350
600875: OMIM gene: ACYLPHOSPHATASE, ERYTHROCYTE; ACYP1 Gene map locus 14q24.3 (link from Ensembl BioMart) ENSP00000238618 ORTHOMCL11440 jaccard_2286
600876: OMIM gene: SYNTAXIN 3A; STX3A (link from Ensembl BioMart) ENSP00000338562 ORTHOMCL335 jaccard_145
600877: OMIM gene: POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 6; KCNJ6 Gene map locus 21q22.1 (link from Ensembl BioMart) ENSP00000288309 ORTHOMCL20885 jaccard_224
600878: OMIM phenotype: RECEPTOR TYROSINE KINASE NSK2 (link from Ensembl BioMart) ENSP00000189978 ORTHOMCL6557 jaccard_2
600879: OMIM gene: NUCLEAR RESPIRATORY FACTOR 1; NRF1 Gene map locus 7q32 (link from Ensembl BioMart) ENSP00000223190 ORTHOMCL2054 jaccard_1840
ENSP00000309826 ORTHOMCL2054 jaccard_1840
600881: OMIM phenotype: CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES; CCZS Gene map locus 17q11.1-q12 (link from NCBI) ENSP00000225387 ORTHOMCL13730 jaccard_173
600882: OMIM phenotype: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B Gene map locus 3q21 (link from NCBI) ENSP00000265062 ORTHOMCL1062 jaccard_8
600887: OMIM gene: MutS, E. COLI, HOMOLOG OF, 3; MSH3 Gene map locus 5q11-q12 (link from Ensembl BioMart) ENSP00000265081 ORTHOMCL7284 jaccard_608
600888: OMIM gene: RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 5; ARHGEF5 Gene map locus 7q33-q35 (link from Ensembl BioMart) ENSP00000056217 ORTHOMCL10404 jaccard_55
ENSP00000343699
600889: OMIM gene: COMPLEMENT FACTOR H-RELATED 2; CFHL2 Gene map locus 1q31-q32.1 (link from Ensembl BioMart) ENSP00000256787 ORTHOMCL18986 jaccard_34
600890: OMIM gene: HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA Gene map locus 2p23 (link from Ensembl BioMart) ENSP00000288682 ORTHOMCL1573 jaccard_566
600892: OMIM gene: SINGLE-MINDED, DROSOPHILA, HOMOLOG OF, 2; SIM2 SIM Gene map locus 21q22.2 (link from Ensembl BioMart) ENSP00000290399 ORTHOMCL14653 jaccard_128
600895: OMIM gene: PROLACTIN-RELEASING HORMONE RECEPTOR; PRLHR Gene map locus 10q25.3-q26 (link from Ensembl BioMart) ENSP00000239032 ORTHOMCL5748 jaccard_6
600896: OMIM gene: G PROTEIN-COUPLED RECEPTOR 14; GPR14 Gene map locus 17q25.3 (link from Ensembl BioMart) ENSP00000323516 ORTHOMCL11796 jaccard_6
600897: OMIM gene: GAP JUNCTION PROTEIN, ALPHA-8; GJA8 Gene map locus 1q21.1 (link from Ensembl BioMart) ENSP00000240986 ORTHOMCL10544 jaccard_152
600898: OMIM gene: SRY-BOX 11; SOX11 Gene map locus 2p25 (link from Ensembl BioMart) ENSP00000322568 ORTHOMCL9769 jaccard_2569
600899: OMIM gene: PROTEIN KINASE, DNA-ACTIVATED, CATALYTIC SUBUNIT; PRKDC Gene map locus 8q11 (link from Ensembl BioMart) ENSP00000313420 ORTHOMCL5990 jaccard_497
600900: OMIM gene: SARCOGLYCAN, BETA; SGCB Gene map locus 4q12 (link from Ensembl BioMart) ENSP00000295211 ORTHOMCL11727 jaccard_1489
600901: OMIM gene: FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE FANCONI ANEMIA, COMPLEMENTATION GROUP E GENE, INCLUDED Gene map locus 6p22-p21 (link from Ensembl BioMart) ENSP00000229769 ORTHOMCL17089
600902: OMIM gene: SELENOPHOSPHATE SYNTHETASE 1 (link from Ensembl BioMart) ENSP00000199674 ORTHOMCL4717 jaccard_2001
600904: OMIM gene: ASTROTACTIN; ASTN Gene map locus 1q25 (link from Ensembl BioMart) ENSP00000354536 ORTHOMCL2935 jaccard_2549
ENSP00000281881 ORTHOMCL2935 jaccard_2549
600909: OMIM gene: LANOSTEROL SYNTHASE; LSS Gene map locus 21q22.3 (link from Ensembl BioMart) ENSP00000348762 ORTHOMCL875 jaccard_1361
600910: OMIM gene: INSULIN-LIKE 4; INSL4 Gene map locus 9p24 (link from Ensembl BioMart) ENSP00000239316 jaccard_5129
600911: OMIM gene: CHROMOSOME 11 OPEN READING FRAME 8; C11ORF8 Gene map locus 11p14-p13 (link from Ensembl BioMart) ENSP00000350833 ORTHOMCL8018 jaccard_2154
600913: OMIM phenotype: DELAYED-EARLY INSULIN-INDUCED GENE CL-6 (link from Ensembl BioMart) ENSP00000344741 ORTHOMCL11249 jaccard_2794
600914: OMIM gene: SPLICING FACTOR, ARGININE/SERINE-RICH, 5; SFRS5 (link from Ensembl BioMart) ENSP00000216538 ORTHOMCL13233 jaccard_0
600915: OMIM gene: NESTIN; NES (link from Ensembl BioMart) ENSP00000343128 ORTHOMCL6978 jaccard_6506
ENSP00000255024 ORTHOMCL6978 jaccard_6506
600916: OMIM gene: INOSITOL POLYPHOSPHATE-4-PHOSPHATASE, TYPE I, 107-KD; INPP4A Gene map locus 2q11.2 (link from Ensembl BioMart) ENSP00000323547 ORTHOMCL3985 jaccard_2492
600917: OMIM gene: PROTEIN PHOSPHATASE 1, REGULATORY SUBUNIT 3A; PPP1R3A Gene map locus 7q11.23-q21.11 (link from Ensembl BioMart) ENSP00000284601 ORTHOMCL22327 jaccard_10029
600919: OMIM phenotype: SICK SINUS SYNDROME WITH BRADYCARDIA LONG QT SYNDROME 4, INCLUDED; LQT4, INCLUDED Gene map locus 4q25-q27 (link from NCBI) ENSP00000264366 ORTHOMCL120 jaccard_11
ENSP00000349588 ORTHOMCL120 jaccard_11
ENSP00000354873 ORTHOMCL120 jaccard_11
600921: OMIM gene: FIBROBLAST GROWTH FACTOR 9; FGF9 Gene map locus 13q11-q12 (link from Ensembl BioMart) ENSP00000218862 ORTHOMCL24488 jaccard_176
600922: OMIM gene: MYOSIN LIGHT CHAIN KINASE; MYLK KINASE-RELATED PROTEIN, INCLUDED; KRP, INCLUDED Gene map locus 3q21 (link from Ensembl BioMart) ENSP00000320622 ORTHOMCL966 jaccard_2
ENSP00000354004 ORTHOMCL966 jaccard_2
ENSP00000352088 ORTHOMCL966 jaccard_2
ENSP00000353530 ORTHOMCL966 jaccard_2
ENSP00000355024 ORTHOMCL966 jaccard_2
ENSP00000346846 ORTHOMCL966 jaccard_2
ENSP00000353452 ORTHOMCL966 jaccard_2
600923: OMIM gene: PROTOPORPHYRINOGEN OXIDASE; PPOX Gene map locus 1q22 (link from Ensembl BioMart) ENSP00000343943 ORTHOMCL4415 jaccard_4124
600924: OMIM gene: GROWTH FACTOR, ERV1-LIKE; GFER Gene map locus 16p13.3-p13.12 (link from Ensembl BioMart) ENSP00000248114 ORTHOMCL2495 jaccard_2379
ENSP00000347286 ORTHOMCL2495 jaccard_2379
600925: OMIM gene: PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, J; PTPRJ Gene map locus 11p11.2 (link from Ensembl BioMart) ENSP00000278456 ORTHOMCL967 jaccard_2
600926: OMIM gene: PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, EPSILON; PTPRE Gene map locus 10q26 (link from Ensembl BioMart) ENSP00000254667 ORTHOMCL3673 jaccard_2
ENSP00000351071
ENSP00000353431 ORTHOMCL3673 jaccard_2
ENSP00000303350 ORTHOMCL3673 jaccard_2
600927: OMIM gene: CYCLIN-DEPENDENT KINASE INHIBITOR 2D; CDKN2D Gene map locus 19p13 (link from Ensembl BioMart) ENSP00000337056 ORTHOMCL10759 jaccard_11
600928: OMIM gene: CONSERVED GENE TELOMERIC TO ALPHA GLOBIN CLUSTER Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000262313 ORTHOMCL5929 jaccard_4249
600929: OMIM gene: CRYSTALLIN, BETA-B1; CRYBB1 CATARACT, PULVERULENT, INCLUDED Gene map locus 22q11.2-q12.1 (link from Ensembl BioMart) ENSP00000215939 ORTHOMCL15690 jaccard_173
600930: OMIM gene: SPERM ADHESION MOLECULE 1; SPAM1 Gene map locus 7q31 (link from Ensembl BioMart) ENSP00000223028 ORTHOMCL11828 jaccard_670
ENSP00000345849 ORTHOMCL11828 jaccard_670
600932: OMIM gene: G PROTEIN-COUPLED INWARD RECTIFIER POTASSIUM CHANNEL Gene map locus 1q21-q23 (link from Ensembl BioMart) ENSP00000294775 ORTHOMCL12563 jaccard_224
600933: OMIM gene: COAGULATION FACTOR II RECEPTOR-LIKE 1; F2RL1 Gene map locus 5q13 (link from Ensembl BioMart) ENSP00000296677 ORTHOMCL17714 jaccard_6
600934: OMIM gene: FOLATE HYDROLASE 1; FOLH1 Gene map locus 11p11.2 (link from Ensembl BioMart) ENSP00000256999 ORTHOMCL663 jaccard_590
ENSP00000349129 ORTHOMCL663 jaccard_590
600935: OMIM gene: POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 8; KCNJ8 Gene map locus 12p11.23 (link from Ensembl BioMart) ENSP00000240662 ORTHOMCL12960 jaccard_224
600936: OMIM gene: HYALURONAN-MEDIATED MOTILITY RECEPTOR; HMMR Gene map locus 5q33.2 (link from Ensembl BioMart) ENSP00000351554 ORTHOMCL7429 jaccard_9811
ENSP00000185942 ORTHOMCL7429 jaccard_9811
600937: OMIM gene: POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11 Gene map locus 11p15.1 (link from Ensembl BioMart) ENSP00000345708 jaccard_224
600938: OMIM gene: RETINOBLASTOMA-BINDING PROTEIN 6; RBBP6 Gene map locus 16p12-p11.2 (link from Ensembl BioMart) ENSP00000316291 ORTHOMCL1474 jaccard_5901
ENSP00000317872 ORTHOMCL1474 jaccard_5901
600939: OMIM gene: INTERLEUKIN 11 RECEPTOR, ALPHA; IL11RA Gene map locus 9p13 (link from Ensembl BioMart) ENSP00000348288 ORTHOMCL4026 jaccard_380
ENSP00000326500 ORTHOMCL4026 jaccard_380
ENSP00000259599 ORTHOMCL4026 jaccard_380
600940: OMIM gene: LIGASE III, DNA, ATP-DEPENDENT; LIG3 Gene map locus 17q11.2-q12 (link from Ensembl BioMart) ENSP00000262327 ORTHOMCL5060 jaccard_969
ENSP00000304618 ORTHOMCL5060 jaccard_969
600941: OMIM gene: BILIVERDIN REDUCTASE B; BLVRB Gene map locus 19q13.13-q13.2 (link from Ensembl BioMart) ENSP00000263368 ORTHOMCL12903 jaccard_6927
600943: OMIM gene: COLLAGEN-BINDING PROTEIN 2; CBP2 CBP1, INCLUDED Gene map locus 11q13.5 (link from Ensembl BioMart) ENSP00000350894 ORTHOMCL10432 jaccard_51
600944: OMIM gene: DEOXYHYPUSINE SYNTHASE; DHPS Gene map locus 19p13.12-p13.11 (link from Ensembl BioMart) ENSP00000221303 ORTHOMCL3301 jaccard_3606
ENSP00000210060 ORTHOMCL3301 jaccard_3606
600945: OMIM gene: UROCORTIN; UCN Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000296099 ORTHOMCL14353 jaccard_4967
600946: OMIM gene: GROWTH HORMONE RECEPTOR; GHR GROWTH HORMONE-BINDING PROTEIN, INCLUDED; GHBP, INCLUDED Gene map locus 5p13-p12 (link from Ensembl BioMart) ENSP00000230882 ORTHOMCL4057 jaccard_380
ENSP00000348621 jaccard_14637
600947: OMIM gene: HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1 Gene map locus 17q21.2-q21.3 (link from Ensembl BioMart) ENSP00000309392 ORTHOMCL12708
ENSP00000334002 ORTHOMCL12708
600948: OMIM gene: MYELIN-ASSOCIATED OLIGODENDROCYTE BASIC PROTEIN; MOBP Gene map locus 3p22-p21 (link from Ensembl BioMart) ENSP00000312293 ORTHOMCL23129 jaccard_9340
ENSP00000346695 ORTHOMCL18990 jaccard_15005
600950: OMIM gene: ARYLALKYLAMINE N-ACETYLTRANSFERASE; AANAT DELAYED SLEEP PHASE SYNDROME, INCLUDED; DSPS, INCLUDED Gene map locus 17q25 (link from Ensembl BioMart) ENSP00000250615 ORTHOMCL8815 jaccard_6114
600951: OMIM gene: TELOMERIC REPEAT-BINDING FACTOR 1; TERF1 Gene map locus 8q13 (link from Ensembl BioMart) ENSP00000276603 ORTHOMCL11145 jaccard_4228
ENSP00000276602 ORTHOMCL11145 jaccard_4228
600953: OMIM gene: INTERLEUKIN 18; IL18 Gene map locus 11q22.2-q22.3 (link from Ensembl BioMart) ENSP00000280357 ORTHOMCL21214 jaccard_14832
600954: OMIM gene: DEATH-ASSOCIATED PROTEIN; DAP Gene map locus 5p15.2 (link from Ensembl BioMart) ENSP00000230895 ORTHOMCL9725 jaccard_3535
600955: OMIM phenotype: PROPROTEIN CONVERTASE 1 DEFICIENCY Gene map locus 5q15-q21 (link from NCBI) ENSP00000308024 ORTHOMCL14870 jaccard_363
600956: OMIM gene: ANTI-MULLERIAN HORMONE TYPE II RECEPTOR; AMHR2 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000257863 ORTHOMCL20838 jaccard_285
600957: OMIM gene: ANTI-MULLERIAN HORMONE; AMH Gene map locus 19p13.3-p13.2 (link from Ensembl BioMart) ENSP00000221496 ORTHOMCL20037 jaccard_6645
600958: OMIM gene: MYOSIN-BINDING PROTEIN C, CARDIAC; MYBPC3 Gene map locus 11p11.2 (link from Ensembl BioMart) ENSP00000256993 ORTHOMCL1215 jaccard_2
600959: OMIM gene: COATOMER PROTEIN COMPLEX, SUBUNIT BETA; COPB (link from Ensembl BioMart) ENSP00000249923 ORTHOMCL3599 jaccard_123
600960: OMIM gene: SET TRANSLOCATION, MYELOID LEUKEMIA-ASSOCIATED; SET Gene map locus 9q34 (link from Ensembl BioMart) ENSP00000238274 ORTHOMCL24710 jaccard_233
600962: OMIM phenotype: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK Gene map locus 17q12-q21, 12q13 (link from NCBI) ENSP00000252244 ORTHOMCL2248 jaccard_0
ENSP00000301653 ORTHOMCL971 jaccard_0
600963: OMIM gene: SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 5; SIX5 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000316842 ORTHOMCL22961 jaccard_12642
600965: OMIM phenotype: DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 6; DFNA6 Gene map locus 4p16.1 (link from NCBI) ENSP00000226760 ORTHOMCL9713 jaccard_4920
600966: OMIM gene: LETHAL GIANT LARVAE, DROSOPHILA, HOMOLOG OF, 1; LLGL1 Gene map locus 17p12-p11.2 (link from Ensembl BioMart) ENSP00000321537 ORTHOMCL3663 jaccard_774
600967: OMIM gene: E2F TRANSCRIPTION FACTOR 5; E2F5 (link from Ensembl BioMart) ENSP00000256117 ORTHOMCL11598 jaccard_681
600968: OMIM gene: SOLUTE CARRIER FAMILY 12 (SODIUM/CHLORIDE TRANSPORTER), MEMBER 3; SLC12A3 Gene map locus 16q13 (link from Ensembl BioMart) ENSP00000262502 ORTHOMCL1286 jaccard_287
600969: OMIM phenotype: EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3 EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPATHY, INCLUDED Gene map locus 20q13.3 (link from NCBI) ENSP00000341640 ORTHOMCL12186 jaccard_0
600970: OMIM gene: MYOSIN VI; MYO6 Gene map locus 6q13 (link from Ensembl BioMart) ENSP00000349707 ORTHOMCL1483 jaccard_3
600971: OMIM phenotype: DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 6; DFNB6 Gene map locus 3p21 (link from NCBI) ENSP00000324775 ORTHOMCL14701 jaccard_10411
600972: OMIM phenotype: ACHONDROGENESIS, TYPE IB; ACG1B Gene map locus 5q32-q33.1 (link from NCBI) ENSP00000286298 ORTHOMCL7204 jaccard_193
600974: OMIM phenotype: DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 7; DFNB7 Gene map locus 9q13-q21 (link from NCBI) ENSP00000341433 ORTHOMCL13147 jaccard_517
ENSP00000297784 ORTHOMCL13147 jaccard_517
600976: OMIM gene: FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF; FAT Gene map locus 4q34-q35 (link from Ensembl BioMart) ENSP00000260147 ORTHOMCL704 jaccard_14
600979: OMIM gene: LYMPHOTOXIN B RECEPTOR; LTBR Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000228918 ORTHOMCL19240
600980: OMIM gene: DENTIN MATRIX ACIDIC PHOSPHOPROTEIN 1; DMP1 Gene map locus 4q21 (link from Ensembl BioMart) ENSP00000340935 ORTHOMCL15545 jaccard_9282
600981: OMIM gene: PHOSPHOGLUCOMUTASE 5; PGM5 Gene map locus 9p12-q12 (link from Ensembl BioMart) ENSP00000284507 ORTHOMCL10448 jaccard_764
600982: OMIM gene: MITOGEN-ACTIVATED KINASE KINASE KINASE 1; MAP3K1 Gene map locus Chr.5 (link from Ensembl BioMart) ENSP00000264777 ORTHOMCL10388 jaccard_14729
600983: OMIM gene: NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 2; NR3C2 Gene map locus 4q31.1 (link from Ensembl BioMart) ENSP00000350815 ORTHOMCL4901 jaccard_1435
600984: OMIM gene: cAMP RESPONSE ELEMENT-BINDING PROTEIN-LIKE 1; CREBL1 Gene map locus 6p21.3 (link from Ensembl BioMart) ENSP00000293709 ORTHOMCL22260