Human disease genes 602040-602162

601916-602039 --- 602163-602280

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
602040: OMIM gene: CELL ADHESION MOLECULE, NEURAL, 2; NCAM2 Gene map locus 21q21 (link from Ensembl BioMart) ENSP00000284894 ORTHOMCL1735 jaccard_2
602041: OMIM gene: HOMEOBOX 3A, NK; NKX3A Gene map locus 8p21 (link from Ensembl BioMart) ENSP00000342678 ORTHOMCL12339
602042: OMIM gene: G PROTEIN-COUPLED RECEPTOR 18; GPR18 Gene map locus 13q32 (link from Ensembl BioMart) ENSP00000245300 ORTHOMCL13611 jaccard_6
ENSP00000343428 ORTHOMCL13611 jaccard_6
602043: OMIM gene: G PROTEIN-COUPLED RECEPTOR 31; GPR31 Gene map locus 6q27 (link from Ensembl BioMart) ENSP00000239583 ORTHOMCL5951 jaccard_6
602044: OMIM gene: UNCOUPLING PROTEIN 3; UCP3 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000323740 ORTHOMCL22796 jaccard_27
602046: OMIM gene: GLUCOSE-REGULATED PROTEIN, 58-KD; GRP58 GLUCOSE-REGULATED PROTEIN, 58-KD PSEUDOGENE, INCLUDED; GRP58P, INCLUDED Gene map locus 15q15 (link from Ensembl BioMart) ENSP00000300289 ORTHOMCL5394 jaccard_77
602047: OMIM gene: PHOSPHODIESTERASE 3B, cGMP-INHIBITED; PDE3B Gene map locus 11p15 (link from Ensembl BioMart) ENSP00000282096 ORTHOMCL3305 jaccard_67
602048: OMIM gene: RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 1; RAC1 (link from Ensembl BioMart) ENSP00000258737 ORTHOMCL450 jaccard_8
ENSP00000348461 jaccard_8
602049: OMIM gene: RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 2; RAC2 Gene map locus 22q12.3-q13.2 (link from Ensembl BioMart) ENSP00000249071 ORTHOMCL13519 jaccard_8
602050: OMIM gene: RAS-RELATED C3 BOTULINUM TOXIN SUBSTRATE 3; RAC3 Gene map locus 17q25.3 (link from Ensembl BioMart) ENSP00000304283 ORTHOMCL450 jaccard_8
602052: OMIM gene: CYCLIN G-ASSOCIATED KINASE; GAK Gene map locus 4p16 (link from Ensembl BioMart) ENSP00000314499 ORTHOMCL3800
602053: OMIM gene: KRUPPEL-LIKE FACTOR 6; KLF6 Gene map locus 10p15 (link from Ensembl BioMart) ENSP00000173785 ORTHOMCL16357 jaccard_8597
602054: OMIM gene: T-BOX 1; TBX1 Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000331176 ORTHOMCL19998 jaccard_166
ENSP00000352483 ORTHOMCL19998 jaccard_166
ENSP00000331791 ORTHOMCL8768 jaccard_166
602055: OMIM gene: INSULIN-INDUCED GENE 1; INSIG1 Gene map locus 7q36 (link from Ensembl BioMart) ENSP00000344741 ORTHOMCL11249 jaccard_2794
ENSP00000340010 ORTHOMCL11249 jaccard_2794
ENSP00000344035
602056: OMIM gene: DEFENSIN, BETA, 1; DEFB1 Gene map locus 8p23.2-p23.1 (link from Ensembl BioMart) ENSP00000297439 ORTHOMCL20166 jaccard_5044
602058: OMIM gene: PROTEASE INHIBITOR 10, OVALBUMIN TYPE; PI10 Gene map locus 18q21.3 (link from Ensembl BioMart) ENSP00000238508 ORTHOMCL52 jaccard_51
602059: OMIM gene: IMMUNOGLOBULIN SUPERFAMILY CONTAINING LEUCINE-RICH REPEAT; ISLR Gene map locus 15q23-q24 (link from Ensembl BioMart) ENSP00000249842 ORTHOMCL15194 jaccard_7
602060: OMIM gene: TRANSMEMBRANE PROTEASE, SERINE 2; TMPRSS2 TMPRSS2-ERG FUSION GENE, INCLUDED Gene map locus 21q22.3 (link from Ensembl BioMart) ENSP00000330330 ORTHOMCL25251 jaccard_9710
602061: OMIM gene: EPIREGULIN; EREG (link from Ensembl BioMart) ENSP00000244869 ORTHOMCL23921 jaccard_2418
602062: OMIM gene: NERVE INJURY-INDUCED PROTEIN 1; NINJ1 Gene map locus 9q22 (link from Ensembl BioMart) ENSP00000253969 ORTHOMCL7122 jaccard_2722
602063: OMIM gene: TRANSALDOLASE 1; TALDO1 Gene map locus 11p15.5-p15.4 (link from Ensembl BioMart) ENSP00000321259 ORTHOMCL5316 jaccard_3111
602064: OMIM gene: MYO-INOSITOL MONOPHOSPHATASE 1; IMPA1 Gene map locus 8q21.13-q21.3 (link from Ensembl BioMart) ENSP00000256108 ORTHOMCL1120 jaccard_442
602065: OMIM gene: ADENOSINE DEAMINASE, RNA-SPECIFIC, B2; ADARB2 Gene map locus 10p15 (link from Ensembl BioMart) ENSP00000329642 ORTHOMCL16650 jaccard_787
602069: OMIM gene: NEUROPILIN 1; NRP1 Gene map locus 10p12 (link from Ensembl BioMart) ENSP00000265371 ORTHOMCL12798 jaccard_1035
ENSP00000310567 ORTHOMCL12798 jaccard_1035
602070: OMIM gene: NEUROPILIN 2; NRP2 Gene map locus 2q34 (link from Ensembl BioMart) ENSP00000347238 ORTHOMCL3187 jaccard_1035
ENSP00000353582 ORTHOMCL3187 jaccard_1035
ENSP00000350432 ORTHOMCL3187 jaccard_1035
ENSP00000349632 ORTHOMCL3187 jaccard_1035
ENSP00000272849 ORTHOMCL3187 jaccard_1035
602072: OMIM gene: CYTOCHROME c OXIDASE, SUBUNIT VIa, POLYPEPTIDE 1; COX6A1 Gene map locus 12q24.2 (link from Ensembl BioMart) ENSP00000229379 ORTHOMCL4596 jaccard_2381
602074: OMIM gene: DEATH-ASSOCIATED PROTEIN 3; DAP3 Gene map locus 1q21 (link from Ensembl BioMart) ENSP00000341692 ORTHOMCL5657 jaccard_3427
602075: OMIM gene: SPECIAL AT-RICH SEQUENCE-BINDING PROTEIN 1; SATB1 Gene map locus 3p23 (link from Ensembl BioMart) ENSP00000341024 ORTHOMCL4934 jaccard_1867
602076: OMIM gene: TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1; TRPV1 Gene map locus 17p13 (link from Ensembl BioMart) ENSP00000174621 ORTHOMCL1393 jaccard_451
602078: OMIM phenotype: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2; CFEOM2 Gene map locus 11q13.3-q13.4 (link from NCBI) ENSP00000298231 ORTHOMCL20605 jaccard_10499
602079: OMIM phenotype: TRIMETHYLAMINURIA Gene map locus 1q23-q25 (link from NCBI) ENSP00000008553 ORTHOMCL405 jaccard_279
602080: OMIM phenotype: PAGET DISEASE OF BONE; PDB Gene map locus 18q22.1, 5q35, 5q31 (link from NCBI) ENSP00000269485 ORTHOMCL24576
602081: OMIM phenotype: SPEECH-LANGUAGE DISORDER 1; SPCH1 Gene map locus 7q31 (link from NCBI) ENSP00000265436 ORTHOMCL2552 jaccard_579
602082: OMIM phenotype: CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II; CDB2 Gene map locus 10q24, 5q31 (link from NCBI) ENSP00000306306 ORTHOMCL862 jaccard_639
602083: OMIM phenotype: USHER SYNDROME, TYPE IF; USH1F Gene map locus 10q21-q22 (link from NCBI) ENSP00000354950 ORTHOMCL6916 jaccard_14
602088: OMIM phenotype: NEPHRONOPHTHISIS 2; NPHP2 Gene map locus 9q31 (link from NCBI) ENSP00000262457 ORTHOMCL10704 jaccard_11
ENSP00000262456 ORTHOMCL10704 jaccard_11
602089: OMIM phenotype: HEMANGIOMA, CAPILLARY INFANTILE Gene map locus 5q35.3, 5q31-q33, 4q12 (link from NCBI) ENSP00000263923 ORTHOMCL18878 jaccard_2
ENSP00000261937 ORTHOMCL16243 jaccard_2
602090: OMIM gene: LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 3; LTBP3 Gene map locus 11q12 (link from Ensembl BioMart) ENSP00000326647 ORTHOMCL9706 jaccard_5
ENSP00000301873 ORTHOMCL9706 jaccard_5
602091: OMIM gene: LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 2; LTBP2 Gene map locus 14q24 (link from Ensembl BioMart) ENSP00000261978 ORTHOMCL7260 jaccard_5
602092: OMIM phenotype: DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 18; DFNB18 Gene map locus 11p15.1 (link from NCBI) ENSP00000005226 ORTHOMCL9834 jaccard_33
ENSP00000317018 ORTHOMCL21764 jaccard_33
602093: OMIM phenotype: CONE DYSTROPHY 3; COD3 Gene map locus 6p21.1 (link from NCBI) ENSP00000053469 ORTHOMCL16018 jaccard_16
602095: OMIM gene: SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 4; SLC30A4 Gene map locus 15q21.1 (link from Ensembl BioMart) ENSP00000261867 ORTHOMCL17634 jaccard_332
602098: OMIM gene: POLO-LIKE KINASE 1; PLK1 (link from Ensembl BioMart) ENSP00000300093 ORTHOMCL3875 jaccard_8232
602100: OMIM gene: PBX/KNOTTED 1 HOMEOBOX 1; PKNOX1 Gene map locus 21q22.3 (link from Ensembl BioMart) ENSP00000291547 ORTHOMCL125 jaccard_333
602101: OMIM gene: CLAUDIN 5; CLDN5 Gene map locus 22q11.2 (link from Ensembl BioMart) ENSP00000331877 ORTHOMCL8592 jaccard_113
602102: OMIM gene: SUPPRESSOR OF TY 5, S. CEREVISIAE, HOMOLOG OF; SUPT5H Gene map locus 19q13.1-q13.2 (link from Ensembl BioMart) ENSP00000352117 ORTHOMCL1447 jaccard_1670
602103: OMIM gene: TRANSMEMBRANE PROTEIN 1; TMEM1 Gene map locus 21q22.3 (link from Ensembl BioMart) ENSP00000291574 ORTHOMCL6371 jaccard_5899
602104: OMIM gene: SH3 DOMAIN-BINDING PROTEIN 2; SH3BP2 Gene map locus 4p16.3 (link from Ensembl BioMart) ENSP00000348685 ORTHOMCL7754 jaccard_14818
602105: OMIM gene: MutS, E. COLI, HOMOLOG OF, 4; MSH4 Gene map locus 1p31 (link from Ensembl BioMart) ENSP00000263187 ORTHOMCL5751 jaccard_608
602106: OMIM gene: POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 15; KCNJ15 Gene map locus 21q22.2 (link from Ensembl BioMart) ENSP00000331698 ORTHOMCL9646 jaccard_224
602108: OMIM gene: MATRILIN 2; MATN2 Gene map locus 8q22 (link from Ensembl BioMart) ENSP00000254898 ORTHOMCL3550 jaccard_2
602109: OMIM gene: MATRILIN 3; MATN3 Gene map locus 2p24-p23 (link from Ensembl BioMart) ENSP00000254354 ORTHOMCL4324 jaccard_2
602110: OMIM gene: SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 2; SLC29A2 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000350024 ORTHOMCL17305 jaccard_386
602111: OMIM phenotype: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, TYPE II Gene map locus 11q22.3 (link from NCBI) ENSP00000260302 ORTHOMCL1680 jaccard_144
602112: OMIM gene: CHROMOSOME 22 OPEN READING FRAME 1; C22ORF1 (link from Ensembl BioMart) ENSP00000335568 jaccard_2154
602113: OMIM gene: MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA 2; MLL2 Gene map locus 12q12-q14 (link from Ensembl BioMart) ENSP00000301067 ORTHOMCL733 jaccard_9749
602115: OMIM gene: FIBROBLAST GROWTH FACTOR 10; FGF10 Gene map locus 5p13-p12 (link from Ensembl BioMart) ENSP00000264664 ORTHOMCL16159 jaccard_176
602116: OMIM gene: GLIOMA-AMPLIFIED SEQUENCE 41 Gene map locus 12q13-q15 (link from Ensembl BioMart) ENSP00000247843 ORTHOMCL4350 jaccard_2759
602117: OMIM gene: NECDIN; NDN Gene map locus 15q11-q13 (link from Ensembl BioMart) ENSP00000332643 ORTHOMCL21617 jaccard_194
602118: OMIM gene: CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 1; CHD1 Gene map locus 5q15-q21 (link from Ensembl BioMart) ENSP00000284049 ORTHOMCL1059 jaccard_48
602119: OMIM gene: CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 2; CHD2 Gene map locus 15q26 (link from Ensembl BioMart) ENSP00000311700 ORTHOMCL1059 jaccard_48
602120: OMIM gene: CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 3; CHD3 Gene map locus 17p13 (link from Ensembl BioMart) ENSP00000332628 ORTHOMCL295 jaccard_48
ENSP00000350907 ORTHOMCL295 jaccard_48
602122: OMIM gene: SIGNAL RECOGNITION PARTICLE, 72-KD; SRP72 Gene map locus Chr.18 (link from Ensembl BioMart) ENSP00000342181 ORTHOMCL5294 jaccard_2873
602123: OMIM gene: CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-GAMMA; CAMK2G Gene map locus 10q22 (link from Ensembl BioMart) ENSP00000319060 ORTHOMCL1263 jaccard_13
ENSP00000307082 ORTHOMCL1263 jaccard_13
ENSP00000277853 ORTHOMCL19597 jaccard_13
ENSP00000315599 ORTHOMCL1263 jaccard_13
602125: OMIM gene: CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10; COX10 Gene map locus 17p12-p11.2 (link from Ensembl BioMart) ENSP00000261643 ORTHOMCL5220 jaccard_1507
602126: OMIM gene: ZINC FINGER PROTEIN 161, MOUSE, HOMOLOG OF; ZFP161 Gene map locus 18p11.21 (link from Ensembl BioMart) ENSP00000349503 ORTHOMCL14758 jaccard_85
602127: OMIM gene: SMOOTHELIN; SMTN Gene map locus 22q12.3 (link from Ensembl BioMart) ENSP00000329393 ORTHOMCL882 jaccard_3855
ENSP00000329532 ORTHOMCL882 jaccard_3855
ENSP00000328635 ORTHOMCL882 jaccard_3855
ENSP00000351593 ORTHOMCL882 jaccard_3855
602128: OMIM gene: GAS2-RELATED ON CHROMOSOME 22 Gene map locus 22q12 (link from Ensembl BioMart) ENSP00000332834 ORTHOMCL11360
ENSP00000353229 ORTHOMCL6379 jaccard_2278
602129: OMIM gene: MYOSIN IXB; MYO9B Gene map locus 19p13.1 (link from Ensembl BioMart) ENSP00000314032 ORTHOMCL1329 jaccard_3
602130: OMIM gene: MITOGEN-ACTIVATED PROTEIN KINASE-ACTIVATED PROTEIN KINASE 3; MAPKAPK3 Gene map locus 3p21.3 (link from Ensembl BioMart) ENSP00000350639 ORTHOMCL2965 jaccard_13
602131: OMIM gene: PLECKSTRIN HOMOLOGY-LIKE DOMAIN, FAMILY A, MEMBER 2; PHLDA2 Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000319231 ORTHOMCL13682 jaccard_4023
602132: OMIM gene: CUTANEOUS T-CELL LYMPHOMA-ASSOCIATED ANTIGEN 5; CTAGE5 Gene map locus 14q (link from Ensembl BioMart) ENSP00000343897 ORTHOMCL4019 jaccard_3
ENSP00000280083 ORTHOMCL4019 jaccard_3
ENSP00000343912 jaccard_3
ENSP00000339286 ORTHOMCL4019 jaccard_3
602133: OMIM gene: PHOSPHORIBOSYLFORMYLGLYCINAMIDINE SYNTHASE; PFAS Gene map locus Chr.17 (link from Ensembl BioMart) ENSP00000313490 ORTHOMCL4047 jaccard_3292
602134: OMIM phenotype: TREMOR, HEREDITARY ESSENTIAL, 2; ETM2 Gene map locus 2p24.1 (link from NCBI) ENSP00000305193 ORTHOMCL10109 jaccard_5787
602135: OMIM gene: DYNEIN, AXONEMAL, LIGHT INTERMEDIATE POLYPEPTIDE 1; DNALI1 Gene map locus 1p35.1 (link from Ensembl BioMart) ENSP00000333618 ORTHOMCL7977 jaccard_4591
ENSP00000296218 jaccard_4591
602136: OMIM gene: PEROXISOME BIOGENESIS FACTOR 1; PEX1 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 1, INCLUDED Gene map locus 7q21-q22 (link from Ensembl BioMart) ENSP00000248633 ORTHOMCL3950 jaccard_9650
602137: OMIM gene: NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 2; NDUFA2 Gene map locus 5q31.2 (link from Ensembl BioMart) ENSP00000252102 ORTHOMCL8356 jaccard_5047
602138: OMIM gene: NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 6; NDUFA6 Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000330937 ORTHOMCL8285 jaccard_4813
602139: OMIM gene: NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 7; NDUFA7 Gene map locus 19p13.2 (link from Ensembl BioMart) ENSP00000301457 ORTHOMCL6283 jaccard_5035
602140: OMIM gene: NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 8; NDUFB8 Gene map locus 10q23.2-q23.33 (link from Ensembl BioMart) ENSP00000299166 ORTHOMCL6063 jaccard_4478
602141: OMIM gene: NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8; NDUFS8 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000315774 ORTHOMCL8021 jaccard_4019
602142: OMIM gene: PHOSPHOLIPASE C, DELTA-1; PLCD1 Gene map locus 3p22-p21.3 (link from Ensembl BioMart) ENSP00000335600 ORTHOMCL207 jaccard_192
602143: OMIM gene: TUMOR PROTEIN p53-BINDING PROTEIN 2; TP53BP2 Gene map locus 1q42.1 (link from Ensembl BioMart) ENSP00000353560 ORTHOMCL4323 jaccard_1510
ENSP00000341957 ORTHOMCL4323 jaccard_1510
ENSP00000347419 ORTHOMCL4323 jaccard_1510
602144: OMIM gene: BROMODOMAIN, TESTIS-SPECIFIC; BRDT Gene map locus 1p (link from Ensembl BioMart) ENSP00000260512 ORTHOMCL255 jaccard_259
ENSP00000354568 ORTHOMCL255 jaccard_259
ENSP00000355181 ORTHOMCL255 jaccard_259
602145: OMIM gene: PROLIFERATION-ASSOCIATED 2G4, 38-KD; PA2G4 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000302886 ORTHOMCL3519 jaccard_871
602146: OMIM gene: LIM HOMEOBOX GENE 4 LHX4/IGHG1 FUSION GENE, INCLUDED Gene map locus 1q25 (link from Ensembl BioMart) ENSP00000263726 ORTHOMCL24209 jaccard_223
602148: OMIM gene: SRY-BOX 1; SOX1 Gene map locus 13q34 (link from Ensembl BioMart) ENSP00000330218 ORTHOMCL10738
602149: OMIM gene: PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1 Gene map locus 5q31 (link from Ensembl BioMart) ENSP00000265340 ORTHOMCL7221 jaccard_329
602150: OMIM gene: SNAIL, DROSOPHILA, HOMOLOG OF, 2; SNAI2 Gene map locus 8q11 (link from Ensembl BioMart) ENSP00000020945 ORTHOMCL5930 jaccard_1
602151: OMIM gene: DISHEVELLED 2; DVL2 (link from Ensembl BioMart) ENSP00000005340 ORTHOMCL1819 jaccard_1138
602155: OMIM gene: REPRODUCTION/CHROMOSOME 8; D8S2298E Gene map locus 8p12-p11.2 (link from Ensembl BioMart) ENSP00000265616 ORTHOMCL16963 jaccard_7856
602157: OMIM gene: NEUROONCOLOGIC VENTRAL ANTIGEN 1; NOVA1 Gene map locus 14q (link from Ensembl BioMart) ENSP00000299472 ORTHOMCL802 jaccard_100
ENSP00000342387
ENSP00000267422 ORTHOMCL802 jaccard_100
602158: OMIM gene: CHLORIDE CHANNEL, NUCLEOTIDE SENSITIVE, 1A; CLNS1A Gene map locus 11q13.5-q14.1 (link from Ensembl BioMart) ENSP00000263309 ORTHOMCL6624 jaccard_4045
602159: OMIM gene: CORONIN 2A; CORO2A Gene map locus 9q22.3 (link from Ensembl BioMart) ENSP00000324921 ORTHOMCL10228 jaccard_421
ENSP00000343746 ORTHOMCL10228 jaccard_421
602160: OMIM gene: TRANSCRIPTION FACTOR DP2; TFDP2 Gene map locus 3q23 (link from Ensembl BioMart) ENSP00000309622 ORTHOMCL1946 jaccard_1542
602161: OMIM gene: PROTEASOME ACTIVATOR SUBUNIT 2; PSME2 Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000216802 ORTHOMCL11993 jaccard_1343
602162: OMIM gene: SYNAPTONEMAL COMPLEX PROTEIN 1; SYCP1 Gene map locus 1p13 (link from Ensembl BioMart) ENSP00000355125 ORTHOMCL10189 jaccard_8231