Human disease genes 123670-125800

120150-123660 --- 125850-131440

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
123670: OMIM gene: CRYSTALLIN, GAMMA-B; CRYGB Gene map locus 2q33-q35 (link from Ensembl BioMart) ENSP00000260988 ORTHOMCL12976 jaccard_173
123680: OMIM gene: CRYSTALLIN, GAMMA-C; CRYGC CATARACT, VARIABLE ZONULAR PULVERULENT, INCLUDED Gene map locus 2q33-q35 (link from Ensembl BioMart) ENSP00000282141 ORTHOMCL21175 jaccard_173
123690: OMIM gene: CRYSTALLIN, GAMMA-D; CRYGD CATARACT, PUNCTATE, PROGRESSIVE JUVENILE-ONSET, INCLUDED Gene map locus 2q33-q35 (link from Ensembl BioMart) ENSP00000264376 ORTHOMCL9340 jaccard_173
123691: OMIM gene: CRYSTALLIN, ZETA; CRYZ Gene map locus 1p31-p22 (link from Ensembl BioMart) ENSP00000339399 ORTHOMCL8228 jaccard_80
ENSP00000263416 ORTHOMCL8228 jaccard_80
123695: OMIM gene: PHOSPHATE CYTIDYLYLTRANSFERASE 1, CHOLINE, ALPHA ISOFORM; PCYT1A Gene map locus 3q (link from Ensembl BioMart) ENSP00000292823 ORTHOMCL632 jaccard_523
123700: OMIM phenotype: CUTIS LAXA, AUTOSOMAL DOMINANT Gene map locus 14q32.1, 7q11.2 (link from NCBI) ENSP00000345008 ORTHOMCL10002 jaccard_5
ENSP00000351807 ORTHOMCL8037 jaccard_0
ENSP00000313565 ORTHOMCL8037 jaccard_0
123730: OMIM gene: CRYSTALLIN, GAMMA-S; CRYGS CATARACT, PROGRESSIVE POLYMORPHIC CORTICAL, INCLUDED Gene map locus 3q27 (link from Ensembl BioMart) ENSP00000312099 ORTHOMCL9624 jaccard_173
123740: OMIM gene: CRYSTALLIN, MU; CRYM Gene map locus 16p13.11-p12.3 (link from Ensembl BioMart) ENSP00000219599 ORTHOMCL10187 jaccard_6065
123790: OMIM phenotype: CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON Gene map locus 10q26 (link from NCBI) ENSP00000352309
ENSP00000263451 ORTHOMCL329 jaccard_2
ENSP00000351276 ORTHOMCL329 jaccard_2
ENSP00000263454 ORTHOMCL329 jaccard_2
ENSP00000333090 ORTHOMCL329 jaccard_2
ENSP00000309878 ORTHOMCL329 jaccard_2
ENSP00000348559 ORTHOMCL329 jaccard_2
ENSP00000350166 ORTHOMCL329 jaccard_2
123803: OMIM gene: ACTIVATING TRANSCRIPTION FACTOR 1; ATF1 ATF1/EWS FUSION GENE, INCLUDED Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000262053 ORTHOMCL11437 jaccard_758
123805: OMIM gene: PHOSPHODIESTERASE 3A, cGMP-INHIBITED; PDE3A (link from Ensembl BioMart) ENSP00000351957 ORTHOMCL3305 jaccard_67
123810: OMIM gene: cAMP RESPONSE ELEMENT-BINDING PROTEIN 1; CREB1 Gene map locus 2q32.3-q34 (link from Ensembl BioMart) ENSP00000236995 ORTHOMCL1045 jaccard_758
ENSP00000236996 ORTHOMCL1045 jaccard_758
123811: OMIM gene: ACTIVATING TRANSCRIPTION FACTOR 2; ATF2 Gene map locus 2q32 (link from Ensembl BioMart) ENSP00000264110 ORTHOMCL4929 jaccard_313
123812: OMIM gene: cAMP RESPONSE ELEMENT MODULATOR; CREM INDUCIBLE cAMP EARLY REPRESSOR, INCLUDED; ICER, INCLUDED Gene map locus 10p12.1-p11.2 (link from Ensembl BioMart) ENSP00000265372 ORTHOMCL1045 jaccard_758
ENSP00000341875 ORTHOMCL23284 jaccard_758
ENSP00000346804 ORTHOMCL21794 jaccard_758
ENSP00000340548 ORTHOMCL23284 jaccard_758
ENSP00000337138 ORTHOMCL1045 jaccard_758
ENSP00000344365 jaccard_6940
ENSP00000333055 ORTHOMCL19978 jaccard_758
ENSP00000345384 ORTHOMCL15442 jaccard_758
ENSP00000355416
ENSP00000354593 jaccard_758
ENSP00000349387 ORTHOMCL17938 jaccard_6940
123825: OMIM gene: CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-1; CNGA1 Gene map locus 4p12-cen (link from Ensembl BioMart) ENSP00000351320 ORTHOMCL5181 jaccard_111
123828: OMIM gene: CYCLIN-DEPENDENT KINASE 3; CDK3 Gene map locus 17q22-qter (link from Ensembl BioMart) ENSP00000293215 ORTHOMCL1918 jaccard_28
123829: OMIM gene: CYCLIN-DEPENDENT KINASE 4; CDK4 Gene map locus 12q14 (link from Ensembl BioMart) ENSP00000257904 ORTHOMCL23597 jaccard_28
123830: OMIM gene: CYCLIC NUCLEOTIDE PHOSPHODIESTERASE; CNP Gene map locus 17q21 (link from Ensembl BioMart) ENSP00000309643 ORTHOMCL10086 jaccard_7984
123831: OMIM gene: CYCLIN-DEPENDENT KINASE 5; CDK5 Gene map locus 7q36 (link from Ensembl BioMart) ENSP00000297518 ORTHOMCL13061 jaccard_28
123832: OMIM gene: CYCLIN-DEPENDENT KINASE INHIBITOR 3; CDKN3 Gene map locus 14q22 (link from Ensembl BioMart) ENSP00000335357 ORTHOMCL16285 jaccard_5644
123833: OMIM gene: CYCLIN D2; CCND2 Gene map locus 12p13 (link from Ensembl BioMart) ENSP00000261254 ORTHOMCL3616 jaccard_129
123834: OMIM gene: CYCLIN D3; CCND3 Gene map locus 6p21 (link from Ensembl BioMart) ENSP00000230338 ORTHOMCL22412 jaccard_129
123835: OMIM gene: CYCLIN A2; CCNA2 Gene map locus 4q27 (link from Ensembl BioMart) ENSP00000274026 ORTHOMCL118 jaccard_129
123836: OMIM gene: CYCLIN B1; CCNB1 Gene map locus 5q12 (link from Ensembl BioMart) ENSP00000256442 ORTHOMCL118 jaccard_129
123837: OMIM gene: CYCLIN E1; CCNE1 Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000262643 ORTHOMCL2589 jaccard_1890
123838: OMIM gene: CYCLIN C; CCNC Gene map locus 6q21 (link from Ensembl BioMart) ENSP00000319027 ORTHOMCL3506 jaccard_266
123840: OMIM gene: PEPTIDYL-PROLYL ISOMERASE A; PPIA Gene map locus 7p13 (link from Ensembl BioMart) ENSP00000351238 ORTHOMCL637 jaccard_98
ENSP00000348240 ORTHOMCL637 jaccard_98
ENSP00000244636 jaccard_98
123841: OMIM gene: PEPTIDYL-PROLYL ISOMERASE B; PPIB (link from Ensembl BioMart) ENSP00000300026 ORTHOMCL1429 jaccard_98
123842: OMIM gene: PEPTIDYL-PROLYL ISOMERASE C; PPIC Gene map locus Chr.5 (link from Ensembl BioMart) ENSP00000303057 ORTHOMCL19134 jaccard_98
123855: OMIM gene: CYSTATIN 1; CST1 Gene map locus 20p11.2 (link from Ensembl BioMart) ENSP00000305731 ORTHOMCL6824 jaccard_839
123856: OMIM gene: CYSTATIN 2; CST2 Gene map locus 20p11.2 (link from Ensembl BioMart) ENSP00000307540 ORTHOMCL6824 jaccard_839
123857: OMIM gene: CYSTATIN 4; CST4 Gene map locus 20p11.2 (link from Ensembl BioMart) ENSP00000217423 ORTHOMCL6824 jaccard_839
123858: OMIM gene: CYSTATIN 5; CST5 Gene map locus 20p11.21 (link from Ensembl BioMart) ENSP00000307132 ORTHOMCL6824 jaccard_839
123859: OMIM gene: CYSTEINYL-tRNA SYNTHETASE; CARS Gene map locus 11p15.5 (link from Ensembl BioMart) ENSP00000278224 ORTHOMCL2520 jaccard_1583
123860: OMIM gene: CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE; CTPS Gene map locus 1p34.1 (link from Ensembl BioMart) ENSP00000341016 ORTHOMCL1626 jaccard_1223
123864: OMIM gene: CYTOCHROME c OXIDASE, SUBUNIT IV, ISOFORM 1; COX4I1 Gene map locus 16q22-qter (link from Ensembl BioMart) ENSP00000253452 ORTHOMCL3473 jaccard_2438
123866: OMIM gene: CYTOCHROME c OXIDASE, SUBUNIT Vb; COX5B Gene map locus 2cen-q13 (link from Ensembl BioMart) ENSP00000258424 ORTHOMCL2521 jaccard_2296
123870: OMIM gene: CYTOCHROME c OXIDASE, SUBUNIT VIII; COX8 Gene map locus 11q13 (link from Ensembl BioMart) ENSP00000321260 ORTHOMCL23683 jaccard_6329
123875: OMIM gene: CYSTEINE-RICH INTESTINAL PROTEIN 1; CRIP1 Gene map locus 14q32.33 (link from Ensembl BioMart) ENSP00000332449 ORTHOMCL10546 jaccard_37
123876: OMIM gene: CYSTEINE- AND GLYCINE-RICH PROTEIN 1; CSRP1 Gene map locus 1q32 (link from Ensembl BioMart) ENSP00000345079 ORTHOMCL514 jaccard_37
123885: OMIM gene: S100 CALCIUM-BINDING PROTEIN A8; S100A8 S100A8/S100A9 COMPLEX, INCLUDED Gene map locus 1q21 (link from Ensembl BioMart) ENSP00000271846 ORTHOMCL21112 jaccard_302
123886: OMIM gene: S100 CALCIUM-BINDING PROTEIN A9; S100A9 S100A9/S100A8 COMPLEX, INCLUDED Gene map locus 1q12-q22 (link from Ensembl BioMart) ENSP00000295382 ORTHOMCL19278 jaccard_302
123889: OMIM gene: INTERLEUKIN 10 RECEPTOR, BETA; IL10RB Gene map locus 21q22.1 (link from Ensembl BioMart) ENSP00000290200 ORTHOMCL17172 jaccard_1155
123890: OMIM gene: CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4; CTLA4 CYTOTOXIC T LYMPHOCYTE-ASSOCIATED 4, SOLUBLE ISOFORM, INCLUDED Gene map locus 2q33 (link from Ensembl BioMart) ENSP00000303939 ORTHOMCL20623 jaccard_3730
123900: OMIM gene: VILLIN 2; VIL2 Gene map locus 6q25-q26 (link from Ensembl BioMart) ENSP00000353627 ORTHOMCL490 jaccard_63
ENSP00000338934 ORTHOMCL490 jaccard_63
123910: OMIM gene: GRANZYME B; GZMB Gene map locus 14q11.2 (link from Ensembl BioMart) ENSP00000216341 ORTHOMCL1240 jaccard_10
123920: OMIM gene: CYTIDINE DEAMINASE; CDA Gene map locus 1p36.2-p35 (link from Ensembl BioMart) ENSP00000289839 ORTHOMCL947 jaccard_1342
123930: OMIM gene: CYTOCHROME P450, SUBFAMILY IIB, POLYPEPTIDE 6; CYP2B6 Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000324648 ORTHOMCL27 jaccard_9
123940: OMIM gene: KERATIN 4; KRT4 Gene map locus 12q13 (link from Ensembl BioMart) ENSP00000293774 ORTHOMCL23289 jaccard_0
123970: OMIM gene: CYTOCHROME C, SOMATIC; CYCS (link from Ensembl BioMart) ENSP00000307786 ORTHOMCL1200 jaccard_1024
123980: OMIM gene: CYTOCHROME C1; CYC1 Gene map locus 8q24.3 (link from Ensembl BioMart) ENSP00000317159 ORTHOMCL2228 jaccard_2264
123995: OMIM gene: CYTOCHROME c OXIDASE, SUBUNIT VIIa, POLYPEPTIDE 1; COX7A1 Gene map locus 19q12 (link from Ensembl BioMart) ENSP00000292907 ORTHOMCL8299 jaccard_2673
123996: OMIM gene: CYTOCHROME c OXIDASE, SUBUNIT VIIa, POLYPEPTIDE 2; COX7A2 Gene map locus 6q12 (link from Ensembl BioMart) ENSP00000230459 ORTHOMCL8299 jaccard_2673
123997: OMIM gene: CYTOCHROME c OXIDASE, SUBUNIT VIIa, POLYPEPTIDE 3; COX7A3 Gene map locus 4q22 (link from Ensembl BioMart) ENSP00000226490 ORTHOMCL8299 jaccard_2673
124000: OMIM phenotype: MITOCHONDRIAL COMPLEX III DEFICIENCY Gene map locus 8q22, 2q33 (link from NCBI) ENSP00000352219 ORTHOMCL229 jaccard_594
ENSP00000287022 ORTHOMCL1199 jaccard_1834
124010: OMIM gene: CYTOCHROME P450, SUBFAMILY IIIA, POLYPEPTIDE 4; CYP3A4 Gene map locus 7q22.1 (link from Ensembl BioMart) ENSP00000337915 ORTHOMCL37 jaccard_9
124015: OMIM gene: CYTOCHROME P450 OXIDOREDUCTASE; POR Gene map locus 7q11.2 (link from Ensembl BioMart) ENSP00000265302 ORTHOMCL2432 jaccard_390
124020: OMIM gene: CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 Gene map locus 10q24.1-q24.3 (link from Ensembl BioMart) ENSP00000285981 ORTHOMCL27 jaccard_9
124030: OMIM gene: CYTOCHROME P450, SUBFAMILY IID, POLYPEPTIDE 6; CYP2D6 Gene map locus 22q13.1 (link from Ensembl BioMart) ENSP00000350008 ORTHOMCL3999 jaccard_9
124040: OMIM gene: CYTOCHROME P450, SUBFAMILY IIE; CYP2E Gene map locus 10q24.3-qter (link from Ensembl BioMart) ENSP00000252945 ORTHOMCL23809 jaccard_9
124050: OMIM gene: D-AMINO ACID OXIDASE; DAO Gene map locus 12q24 (link from Ensembl BioMart) ENSP00000228476 ORTHOMCL5712 jaccard_1420
124060: OMIM gene: CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 2; CYP1A2 PHENACETIN METABOLISM, DEFECT IN, INCLUDED Gene map locus 15q22-qter (link from Ensembl BioMart) ENSP00000342007 ORTHOMCL17 jaccard_9
124070: OMIM gene: CYTOCHROME P450, SUBFAMILY IIF, POLYPEPTIDE 1; CYP2F1 Gene map locus 19q13.2 (link from Ensembl BioMart) ENSP00000333534 ORTHOMCL20665 jaccard_9
124075: OMIM gene: CYTOCHROME P450, SUBFAMILY IVB, MEMBER 1; CYP4B1 Gene map locus 1p34-p12 (link from Ensembl BioMart) ENSP00000271153 ORTHOMCL14844 jaccard_9
124080: OMIM gene: CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2 HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1, INCLUDED; FHHA1, INCLUDED Gene map locus 8q21 (link from Ensembl BioMart) ENSP00000325822 ORTHOMCL11820 jaccard_9
124089: OMIM gene: CYTOCHROME c OXIDASE, SUBUNIT VIb; COX6B Gene map locus 19q13.1 (link from Ensembl BioMart) ENSP00000246554 ORTHOMCL1837 jaccard_2045
124090: OMIM gene: CYTOCHROME c OXIDASE, SUBUNIT VIc; COX6C COX6C/HMGIC FUSION GENE, INCLUDED Gene map locus 8q22-q23 (link from Ensembl BioMart) ENSP00000297564 ORTHOMCL7658 jaccard_4533
124092: OMIM gene: INTERLEUKIN 10; IL10 Gene map locus 1q31-q32 (link from Ensembl BioMart) ENSP00000259152 ORTHOMCL12190 jaccard_1833
124095: OMIM gene: CYTOPLASMIC TYROSINE KINASE; CSK Gene map locus 15q23-q25 (link from Ensembl BioMart) ENSP00000220003 ORTHOMCL3835 jaccard_54
124097: OMIM gene: D SITE OF ALBUMIN PROMOTER-BINDING PROTEIN; DBP Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000222122 ORTHOMCL17363 jaccard_1031
124200: OMIM phenotype: DARIER-WHITE DISEASE; DAR DARIER DISEASE, ACRAL HEMORRHAGIC TYPE, INCLUDED Gene map locus 12q23-q24.1 (link from NCBI) ENSP00000311186 ORTHOMCL214 jaccard_30
ENSP00000324892 ORTHOMCL214 jaccard_30
124450: OMIM gene: D-ASPARTATE OXIDASE; DDO (link from Ensembl BioMart) ENSP00000257982 ORTHOMCL8166 jaccard_1420
ENSP00000229476 jaccard_1420
124500: OMIM phenotype: DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES Gene map locus 13q11-q12 (link from NCBI) ENSP00000298247 ORTHOMCL13321 jaccard_152
125255: OMIM gene: DECORIN; DCN Gene map locus 12q13.2 (link from Ensembl BioMart) ENSP00000228329 jaccard_7
ENSP00000052754 ORTHOMCL11966 jaccard_7
ENSP00000302031 jaccard_7702
ENSP00000308451 ORTHOMCL21904 jaccard_7702
125263: OMIM gene: SULFOTRANSFERASE FAMILY 2A, DEHYDROEPIANDROSTERONE-PREFERRING, MEMBER 1; SULT2A1 Gene map locus 19q13.3 (link from Ensembl BioMart) ENSP00000222002 ORTHOMCL1315 jaccard_143
125264: OMIM gene: DEK ONCOGENE; DEK DEK/NUP214 FUSION GENE, INCLUDED Gene map locus 6p23 (link from Ensembl BioMart) ENSP00000244776 ORTHOMCL1867 jaccard_14063
125265: OMIM gene: RECEPTOR EXPRESSION-ENHANCING PROTEIN 5; REEP5 Gene map locus 5q22-q23 (link from Ensembl BioMart) ENSP00000261482 ORTHOMCL753 jaccard_357
125270: OMIM gene: DELTA-AMINOLEVULINATE DEHYDRATASE; ALAD DELTA-AMINOLEVULINATE DEHYDRATASE DEFICIENCY, INCLUDED Gene map locus 9q34 (link from Ensembl BioMart) ENSP00000277315 ORTHOMCL6683 jaccard_4234
125290: OMIM gene: DELTA-AMINOLEVULINATE SYNTHASE; ALAS1 Gene map locus 3p21.1 (link from Ensembl BioMart) ENSP00000309259 ORTHOMCL2360 jaccard_426
125305: OMIM gene: ERYTHROCYTE MEMBRANE PROTEIN BAND 4.9; EPB49 Gene map locus 8p21.1 (link from Ensembl BioMart) ENSP00000265800 ORTHOMCL8552 jaccard_414
125310: OMIM phenotype: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CADASIL Gene map locus 19p13.2-p13.1 (link from NCBI) ENSP00000263388 ORTHOMCL1238 jaccard_5
125370: OMIM phenotype: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA Gene map locus 12p13.31 (link from NCBI) ENSP00000349076 ORTHOMCL1019 jaccard_6939
125420: OMIM phenotype: DENTIN DYSPLASIA, TYPE II Gene map locus 4q21.3 (link from NCBI) ENSP00000282478 ORTHOMCL1381 jaccard_8928
125450: OMIM gene: DEOXYCYTIDINE KINASE; DCK Gene map locus 4q13.3-q21.1 (link from Ensembl BioMart) ENSP00000286648 ORTHOMCL15066 jaccard_1924
125480: OMIM phenotype: MAJOR AFFECTIVE DISORDER 1; MAFD1 Gene map locus 22q12, 18p (link from NCBI) ENSP00000216037 ORTHOMCL5401 jaccard_14871
125485: OMIM gene: DENTIN SIALOPHOSPHOPROTEIN; DSPP DENTIN PHOSPHOPROTEIN, INCLUDED; DPP, INCLUDED Gene map locus 4q21.3 (link from Ensembl BioMart) ENSP00000282478 ORTHOMCL1381 jaccard_8928
125490: OMIM phenotype: DENTINOGENESIS IMPERFECTA 1; DGI1 Gene map locus 4q21.3 (link from NCBI) ENSP00000282478 ORTHOMCL1381 jaccard_8928
125500: OMIM phenotype: DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III Gene map locus 4q21.3 (link from NCBI) ENSP00000282478 ORTHOMCL1381 jaccard_8928
125505: OMIM gene: DEOXYRIBONUCLEASE I; DNASE1 Gene map locus 16p13.3 (link from Ensembl BioMart) ENSP00000246949 ORTHOMCL10959 jaccard_1638
125597: OMIM gene: DERMATOPONTIN; DPT Gene map locus 1q12-q23 (link from Ensembl BioMart) ENSP00000271418 ORTHOMCL12905 jaccard_4763
125643: OMIM gene: DESMOCOLLIN 1; DSC1 Gene map locus Chr.18 (link from Ensembl BioMart) ENSP00000257198 ORTHOMCL11812 jaccard_14
ENSP00000257197 ORTHOMCL11812 jaccard_14
125645: OMIM gene: DESMOCOLLIN 2; DSC2 Gene map locus 18q12.1 (link from Ensembl BioMart) ENSP00000280904 ORTHOMCL2963 jaccard_14
ENSP00000251081 ORTHOMCL2963 jaccard_14
125647: OMIM gene: DESMOPLAKIN; DSP DESMOPLAKIN I, INCLUDED; DP1, INCLUDED Gene map locus 6p24 (link from Ensembl BioMart) ENSP00000211979 ORTHOMCL82 jaccard_3
125660: OMIM gene: DESMIN; DES Gene map locus 2q35 (link from Ensembl BioMart) ENSP00000273074 ORTHOMCL15062 jaccard_0
125670: OMIM gene: DESMOGLEIN 1; DSG1 Gene map locus 18q12.1-q12.2 (link from Ensembl BioMart) ENSP00000257192 ORTHOMCL12693 jaccard_14
125671: OMIM gene: DESMOGLEIN 2; DSG2 HDGC, INCLUDED Gene map locus 18q12.1-q12.2 (link from Ensembl BioMart) ENSP00000261590 ORTHOMCL1171 jaccard_14
125700: OMIM phenotype: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE Gene map locus 20p13 (link from NCBI) ENSP00000217172 ORTHOMCL16404 jaccard_4437
125800: OMIM phenotype: DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL Gene map locus 12q13 (link from NCBI) ENSP00000199280 ORTHOMCL22559 jaccard_122