Human disease genes 602643-602746

602513-602642 --- 602747-602851

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
602643: OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 11B; TNFRSF11B Gene map locus 8q24 (link from Ensembl BioMart) ENSP00000297350 ORTHOMCL16794 jaccard_691
602644: OMIM gene: TETRASPANIN 4; TSPAN4 Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000324304 ORTHOMCL11048 jaccard_75
602645: OMIM gene: SEMAPHORIN 3C; SEMA3C (link from Ensembl BioMart) ENSP00000265361 ORTHOMCL14535 jaccard_106
602646: OMIM gene: G PROTEIN-COUPLED RECEPTOR 35; GPR35 Gene map locus 2q37.3 (link from Ensembl BioMart) ENSP00000322731 ORTHOMCL16666 jaccard_6
602647: OMIM gene: NUCLEAR RNA EXPORT FACTOR 1; NXF1 Gene map locus 11q12-q13 (link from Ensembl BioMart) ENSP00000294172 ORTHOMCL3973 jaccard_1045
602648: OMIM gene: CHEMOKINE-BINDING PROTEIN 2; CCBP2 Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000273145 ORTHOMCL18726 jaccard_6
602649: OMIM gene: COLD-INDUCIBLE RNA-BINDING PROTEIN; CIRBP Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000322887 ORTHOMCL1354 jaccard_0
602650: OMIM gene: SPECKLE-TYPE POZ PROTEIN; SPOP (link from Ensembl BioMart) ENSP00000240327 ORTHOMCL576 jaccard_291
602651: OMIM gene: NARDILYSIN; NRD1 Gene map locus 1p32.2 (link from Ensembl BioMart) ENSP00000346890 ORTHOMCL2534 jaccard_821
ENSP00000262680 ORTHOMCL2534 jaccard_821
602652: OMIM gene: KALLIKREIN 6; KLK6 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000309148 ORTHOMCL20088 jaccard_10
602653: OMIM gene: TECTORIN, BETA; TECTB (link from Ensembl BioMart) ENSP00000238968 ORTHOMCL13301 jaccard_326
602654: OMIM gene: FERM, ARHGEF, AND PLECKSTRIN DOMAIN-CONTAINING PROTEIN 1; FARP1 (link from Ensembl BioMart) ENSP00000322926 ORTHOMCL2064 jaccard_55
602655: OMIM gene: SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1, ADAPTOR PROTEIN; SLC4A1AP Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000323837 ORTHOMCL4201 jaccard_4052
602656: OMIM gene: ENDONUCLEASE III-LIKE 1; NTHL1 Gene map locus 16p13.3-p13.2 (link from Ensembl BioMart) ENSP00000219066 ORTHOMCL2546 jaccard_3350
602658: OMIM gene: PHOSPHODIESTERASE 2A, cGMP-STIMULATED; PDE2A (link from Ensembl BioMart) ENSP00000334910 ORTHOMCL5912 jaccard_67
602659: OMIM gene: MENAGE A TROIS 1; MNAT1 Gene map locus 14q23 (link from Ensembl BioMart) ENSP00000261245 ORTHOMCL4480 jaccard_4462
602660: OMIM gene: TUBULIN, BETA-2 (link from Ensembl BioMart) ENSP00000341289 ORTHOMCL855 jaccard_92
602661: OMIM gene: TUBULIN, BETA-3; TUBB3 (link from Ensembl BioMart) ENSP00000320295 ORTHOMCL18670 jaccard_92
602662: OMIM gene: TUBULIN, BETA-4; TUBB4 (link from Ensembl BioMart) ENSP00000264071 ORTHOMCL18452 jaccard_92
602663: OMIM gene: PROLACTIN-RELEASING HORMONE; PRLH (link from Ensembl BioMart) ENSP00000165524 ORTHOMCL18388 jaccard_12723
602664: OMIM gene: CASPASE 4, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP4 Gene map locus 11q22.2-q22.3 (link from Ensembl BioMart) ENSP00000347741 ORTHOMCL14373 jaccard_215
602665: OMIM gene: CASPASE 5, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP5 Gene map locus 11q22.2-q22.3 (link from Ensembl BioMart) ENSP00000260315 ORTHOMCL14373 jaccard_215
602666: OMIM gene: MYOSIN XVA; MYO15A Gene map locus 17p11.2 (link from Ensembl BioMart) ENSP00000205890 ORTHOMCL4261 jaccard_3
602667: OMIM gene: NBS1 GENE; NBS1 Gene map locus 8q21 (link from Ensembl BioMart) ENSP00000265433 ORTHOMCL10949 jaccard_14649
602668: OMIM phenotype: DYSTROPHIA MYOTONICA 2; DM2 Gene map locus 3q13.3-q24 (link from NCBI) ENSP00000303844 ORTHOMCL1878 jaccard_2804
602669: OMIM gene: PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 3; PITX3 CATARACT, CONGENITAL, INCLUDED Gene map locus 10q25 (link from Ensembl BioMart) ENSP00000278081 ORTHOMCL18624 jaccard_329
602670: OMIM gene: POLYMERASE, DNA, EPSILON-2; POLE2 Gene map locus 14q13-q21 (link from Ensembl BioMart) ENSP00000216367 ORTHOMCL4907 jaccard_3517
602671: OMIM gene: GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1 Gene map locus 11q23 (link from Ensembl BioMart) ENSP00000350203 ORTHOMCL6660 jaccard_535
602672: OMIM gene: RAS-ASSOCIATED PROTEIN RAB13; RAB13 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000271845 ORTHOMCL13209 jaccard_8
602673: OMIM gene: KALLIKREIN 10; KLK10 Gene map locus 19q13.33 (link from Ensembl BioMart) ENSP00000311746 ORTHOMCL11932 jaccard_10
602675: OMIM gene: ARGINYL AMINOPEPTIDASE; RNPEP Gene map locus 1q32.1-q32.2 (link from Ensembl BioMart) ENSP00000295640 ORTHOMCL12695 jaccard_151
602676: OMIM gene: PHOSPHODIESTERASE 6D, cGMP-SPECIFIC, ROD, DELTA; PDE6D Gene map locus 2q36-q37 (link from Ensembl BioMart) ENSP00000287600 ORTHOMCL8989 jaccard_5955
602678: OMIM gene: MAP/MICROTUBULE AFFINITY-REGULATING KINASE 3; MARK3 Gene map locus 14q32.3 (link from Ensembl BioMart) ENSP00000216288 ORTHOMCL246 jaccard_13
ENSP00000335347 ORTHOMCL246 jaccard_13
602679: OMIM gene: PHOSPHATE CYTIDYLYLTRANSFERASE 2, ETHANOLAMINE; PCYT2 (link from Ensembl BioMart) ENSP00000331719 ORTHOMCL1734 jaccard_523
602680: OMIM gene: GTPase-ACTIVATING PROTEIN, RHO, 5; ARHGAP5 (link from Ensembl BioMart) ENSP00000216743 ORTHOMCL1118 jaccard_1575
602681: OMIM gene: FORKHEAD BOX O3A; FOXO3A Gene map locus 6q21 (link from Ensembl BioMart) ENSP00000350929 ORTHOMCL1173 jaccard_1145
ENSP00000339527 ORTHOMCL1173 jaccard_1145
602682: OMIM gene: BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 1; BAI1 Gene map locus 8q24 (link from Ensembl BioMart) ENSP00000313046 ORTHOMCL827 jaccard_1308
602683: OMIM gene: BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 2; BAI2 Gene map locus 1p35 (link from Ensembl BioMart) ENSP00000257070 ORTHOMCL827 jaccard_1308
602684: OMIM gene: BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 3; BAI3 Gene map locus 6q12 (link from Ensembl BioMart) ENSP00000238918 ORTHOMCL827 jaccard_1308
602686: OMIM gene: MITOTIC ARREST-DEFICIENT 1, YEAST, HOMOLOG-LIKE 1; MAD1L1 Gene map locus 7p22 (link from Ensembl BioMart) ENSP00000265854 ORTHOMCL9657 jaccard_3
602687: OMIM gene: SERINE/THREONINE PROTEIN KINASE 6; STK6 Gene map locus 20q13.2-q13.3 (link from Ensembl BioMart) ENSP00000321591 ORTHOMCL1532 jaccard_808
ENSP00000216911 ORTHOMCL1532 jaccard_808
602688: OMIM gene: HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A/B; HNRPAB (link from Ensembl BioMart) ENSP00000351108 ORTHOMCL1960 jaccard_0
ENSP00000348093 ORTHOMCL21039 jaccard_0
ENSP00000352529 ORTHOMCL1960 jaccard_0
602689: OMIM gene: FASCIN, SEA URCHIN, HOMOLOG OF, 1; FSCN1 Gene map locus 7p22 (link from Ensembl BioMart) ENSP00000339729 ORTHOMCL7982 jaccard_1956
602691: OMIM gene: NUCLEAR RECEPTOR COACTIVATOR 1; NCOA1 Gene map locus 2p23 (link from Ensembl BioMart) ENSP00000320940 ORTHOMCL6598 jaccard_128
ENSP00000288599 ORTHOMCL6598 jaccard_128
602692: OMIM gene: GLIOMA PATHOGENESIS-RELATED PROTEIN (link from Ensembl BioMart) ENSP00000266659 ORTHOMCL67 jaccard_112
602693: OMIM gene: MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 3; MCM3 Gene map locus 6p12 (link from Ensembl BioMart) ENSP00000229854 ORTHOMCL2261 jaccard_240
602694: OMIM gene: NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4; NDUFS4 Gene map locus 5q11.1 (link from Ensembl BioMart) ENSP00000296684 ORTHOMCL6213 jaccard_3989
602695: OMIM gene: TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 12; TNFSF12 Gene map locus 17p13.3 (link from Ensembl BioMart) ENSP00000293825 ORTHOMCL12130 jaccard_3330
602696: OMIM gene: MINICHROMOSOME MAINTENANCE, S. CEREVISIAE, HOMOLOG OF, 5; MCM5 Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000216122 ORTHOMCL4793 jaccard_240
602697: OMIM gene: PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 11; P2RY11 P2RY11/PPAN FUSION PROTEIN, INCLUDED Gene map locus 19p13 (link from Ensembl BioMart) ENSP00000323872 jaccard_6
602698: OMIM gene: NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 3; NFATC3 Gene map locus Chr.16 (link from Ensembl BioMart) ENSP00000300659 ORTHOMCL4589 jaccard_1295
ENSP00000331324 ORTHOMCL4589 jaccard_1295
ENSP00000264008 ORTHOMCL4589 jaccard_1295
602699: OMIM gene: NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT 4; NFATC4 Gene map locus Chr.14 (link from Ensembl BioMart) ENSP00000250373 ORTHOMCL15897 jaccard_8658
602700: OMIM gene: E1A-BINDING PROTEIN, 300-KD; EP300 Gene map locus 22q13 (link from Ensembl BioMart) ENSP00000263253 ORTHOMCL960 jaccard_5643
602701: OMIM gene: SARCOLEMMAL-ASSOCIATED PROTEIN Gene map locus 3p21.2-p14.3 (link from Ensembl BioMart) ENSP00000295952 ORTHOMCL8463 jaccard_3
602702: OMIM gene: MANNOSE 6-PHOSPHATE RECEPTOR-BINDING PROTEIN, 47-KD (link from Ensembl BioMart) ENSP00000221957 ORTHOMCL17143 jaccard_1626
602703: OMIM gene: KATANIN, p80 SUBUNIT, B1; KATNB1 (link from Ensembl BioMart) ENSP00000268509 ORTHOMCL3674 jaccard_10713
602704: OMIM gene: MOUSE DOUBLE MINUTE 4 HOMOLOG; MDM4 Gene map locus 1q32 (link from Ensembl BioMart) ENSP00000348851 ORTHOMCL10028 jaccard_1558
602705: OMIM gene: SYNAPSIN III; SYN3 Gene map locus 22q12.3 (link from Ensembl BioMart) ENSP00000351614 jaccard_1109
ENSP00000330219 ORTHOMCL11037 jaccard_1109
602706: OMIM gene: PROTEASOME 26S SUBUNIT, ATPase, 1; PSMC1 Gene map locus 19p13.3 (link from Ensembl BioMart) ENSP00000261303 ORTHOMCL4003 jaccard_60
602707: OMIM gene: PROTEASOME 26S SUBUNIT, ATPase, 4; PSMC4 Gene map locus 19q13.11-q13.13 (link from Ensembl BioMart) ENSP00000157812 ORTHOMCL5219 jaccard_60
602708: OMIM gene: PROTEASOME 26S SUBUNIT, ATPase, 6; PSMC6 Gene map locus 12q15 (link from Ensembl BioMart) ENSP00000216407 ORTHOMCL3004 jaccard_60
602709: OMIM gene: AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 1; APBB1 Gene map locus 11p15 (link from Ensembl BioMart) ENSP00000299402 ORTHOMCL5685 jaccard_686
ENSP00000311912 ORTHOMCL5685 jaccard_686
602710: OMIM gene: AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY B, MEMBER 2; APBB2 Gene map locus 4p14 (link from Ensembl BioMart) ENSP00000295974 ORTHOMCL1046 jaccard_686
ENSP00000318965 jaccard_686
602711: OMIM gene: FE65-LIKE 2 Gene map locus Chr.5 (link from Ensembl BioMart) ENSP00000351389 jaccard_686
ENSP00000349177 ORTHOMCL12349 jaccard_686
ENSP00000231029 ORTHOMCL16580 jaccard_6393
ENSP00000350171 ORTHOMCL12349 jaccard_686
ENSP00000346378 ORTHOMCL12349 jaccard_686
602712: OMIM gene: AMYLOID BETA A4 PRECURSOR PROTEIN-BINDING, FAMILY A, MEMBER 2; APBA2 Gene map locus 15q (link from Ensembl BioMart) ENSP00000219865 ORTHOMCL2353 jaccard_1150
602713: OMIM gene: A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 9; ADAM9 (link from Ensembl BioMart) ENSP00000305538 ORTHOMCL7097 jaccard_41
602714: OMIM gene: A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 12; ADAM12 Gene map locus 10q26.3 (link from Ensembl BioMart) ENSP00000310004 ORTHOMCL1344 jaccard_41
ENSP00000278082 ORTHOMCL1344 jaccard_41
602715: OMIM gene: LEIOMODIN 1; LMOD1 (link from Ensembl BioMart) ENSP00000342837 ORTHOMCL10891 jaccard_13088
602717: OMIM gene: GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2D; GRIN2D Gene map locus 19q13.1-qter (link from Ensembl BioMart) ENSP00000263269 ORTHOMCL4292 jaccard_84
602718: OMIM gene: TRANSFORMER 2, DROSOPHILA, HOMOLOG OF, ALPHA (link from Ensembl BioMart) ENSP00000297071 ORTHOMCL920 jaccard_0
602719: OMIM gene: SPLICING FACTOR, ARGININE/SERINE-RICH, 10; SFRS10 Gene map locus 3q26.2-q27 (link from Ensembl BioMart) ENSP00000259043 ORTHOMCL920 jaccard_0
602720: OMIM gene: PARAOXONASE 3; PON3 Gene map locus 7q21.3 (link from Ensembl BioMart) ENSP00000265627 ORTHOMCL19086 jaccard_1656
602721: OMIM gene: DISRUPTED MEIOTIC cDNA 1, YEAST, HOMOLOG OF; DMC1 (link from Ensembl BioMart) ENSP00000216024 ORTHOMCL8565 jaccard_412
602722: OMIM phenotype: RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS, INCLUDED Gene map locus 17q21-q22, 7q33-q34 (link from NCBI) ENSP00000308122 ORTHOMCL258 jaccard_374
ENSP00000262418 ORTHOMCL299 jaccard_158
602724: OMIM gene: SEPTIN 5; SEPT5 PNUTL1/MLL FUSION GENE, INCLUDED Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000327409 ORTHOMCL1478 jaccard_177
602725: OMIM gene: INTERFERON-RELATED DEVELOPMENTAL REGULATOR 2; IFRD2 Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000336936 ORTHOMCL15185 jaccard_2053
602726: OMIM gene: CHLORIDE CHANNEL 6; CLCN6 Gene map locus 1p36 (link from Ensembl BioMart) ENSP00000234488 jaccard_11010
ENSP00000308367 jaccard_13392
ENSP00000234487 ORTHOMCL607 jaccard_243
602727: OMIM gene: CHLORIDE CHANNEL 7; CLCN7 Gene map locus 16p13 (link from Ensembl BioMart) ENSP00000262318 ORTHOMCL607 jaccard_243
602728: OMIM gene: SCAVENGER RECEPTOR CLASS A, MEMBER 3; SCARA3 Gene map locus 8p21 (link from Ensembl BioMart) ENSP00000301904 ORTHOMCL14955 jaccard_1514
ENSP00000337985
602729: OMIM gene: GAMMA-AMINOBUTYRIC ACID RECEPTOR, PI; GABRP Gene map locus 5q32-q33 (link from Ensembl BioMart) ENSP00000265294 ORTHOMCL15675 jaccard_32
602730: OMIM gene: ACTIVIN A RECEPTOR, TYPE IIB; ACVR2B LEFT-RIGHT AXIS MALFORMATIONS, INCLUDED Gene map locus 3p22-p21.3 (link from Ensembl BioMart) ENSP00000340361 ORTHOMCL4765 jaccard_285
602731: OMIM gene: FYN-BINDING PROTEIN; FYB (link from Ensembl BioMart) ENSP00000316460 ORTHOMCL5707 jaccard_14258
ENSP00000263405 ORTHOMCL5707 jaccard_14258
602732: OMIM gene: GTPase-ACTIVATING PROTEIN, RHO, 1; ARHGAP1 (link from Ensembl BioMart) ENSP00000310491 ORTHOMCL4876 jaccard_2063
602733: OMIM gene: ALDEHYDE DEHYDROGENASE, FAMILY 9, SUBFAMILY A, MEMBER 1; ALDH9A1 Gene map locus 1q22-q23 (link from Ensembl BioMart) ENSP00000346827 ORTHOMCL2409 jaccard_88
ENSP00000271359 ORTHOMCL2409 jaccard_88
602734: OMIM gene: PLASTIN 1; PLS1 Gene map locus Chr.3 (link from Ensembl BioMart) ENSP00000336831 ORTHOMCL850 jaccard_993
602735: OMIM gene: RETICULOCALBIN 1; RCN1 Gene map locus 11p13 (link from Ensembl BioMart) ENSP00000054950 ORTHOMCL15533 jaccard_647
602736: OMIM gene: ATP SYNTHASE, H+ TRANSPORTING, MITOCHONDRIAL F0 COMPLEX, SUBUNIT C, ISOFORM 3; ATP5G3 Gene map locus Chr.2 (link from Ensembl BioMart) ENSP00000284727 ORTHOMCL464 jaccard_710
602737: OMIM gene: CHEMOKINE, CC MOTIF, LIGAND 21; CCL21 Gene map locus 9p13 (link from Ensembl BioMart) ENSP00000259607 ORTHOMCL9969 jaccard_248
602738: OMIM gene: KARYOPHERIN BETA-1; KPNB1 Gene map locus 17q21 (link from Ensembl BioMart) ENSP00000290158 ORTHOMCL5311 jaccard_383
602739: OMIM gene: PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-1; PRKAA1 Gene map locus 5p12 (link from Ensembl BioMart) ENSP00000254690 ORTHOMCL608 jaccard_13
ENSP00000346148 ORTHOMCL608 jaccard_13
602740: OMIM gene: PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, BETA-1; PRKAB1 Gene map locus 12q24.1 (link from Ensembl BioMart) ENSP00000229328 ORTHOMCL1146 jaccard_1371
602741: OMIM gene: PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, BETA-2; PRKAB2 (link from Ensembl BioMart) ENSP00000254101 ORTHOMCL1146 jaccard_1371
602742: OMIM gene: PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-1; PRKAG1 Gene map locus 12q13.1 (link from Ensembl BioMart) ENSP00000323867 ORTHOMCL15153 jaccard_732
602743: OMIM gene: PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2; PRKAG2 Gene map locus 7q36 (link from Ensembl BioMart) ENSP00000287878 ORTHOMCL1300 jaccard_732
602744: OMIM gene: GLYCERONEPHOSPHATE O-ACYLTRANSFERASE; GNPAT Gene map locus 1q42 (link from Ensembl BioMart) ENSP00000235553 ORTHOMCL9041 jaccard_1116
602745: OMIM gene: PHOSPHATIDYLINOSITOL-4-PHOSPHATE 5-KINASE, TYPE I, BETA; PIP5K1B Gene map locus 9q13 (link from Ensembl BioMart) ENSP00000265382 ORTHOMCL273 jaccard_384
602746: OMIM gene: TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 14; TNFRSF14 Gene map locus 1p36.3-p36.2 (link from Ensembl BioMart) ENSP00000288726 ORTHOMCL8320 jaccard_961
ENSP00000347948 ORTHOMCL8320 jaccard_961