Human disease genes 300521-305990

300393-300520 --- 306000-314310

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
300521: OMIM gene: KINESIN FAMILY MEMBER 4A; KIF4A Gene map locus Xq13.1 (link from Ensembl BioMart) ENSP00000340076 ORTHOMCL2744 jaccard_38
300523: OMIM phenotype: ALLAN-HERNDON-DUDLEY SYNDROME; AHDS Gene map locus Xq13.2 (link from NCBI) ENSP00000276033 ORTHOMCL21044 jaccard_184
300524: OMIM gene: KIAA2022 (link from Ensembl BioMart) ENSP00000055682 ORTHOMCL10662 jaccard_12341
300526: OMIM gene: WD REPEAT-CONTAINING PROTEIN 45; WDR45 (link from Ensembl BioMart) ENSP00000348848 ORTHOMCL8043 jaccard_568
300527: OMIM gene: NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 10; NUDT10 (link from Ensembl BioMart) ENSP00000348831 ORTHOMCL9083 jaccard_736
ENSP00000242415 ORTHOMCL10816 jaccard_736
300528: OMIM gene: NUCLEOSIDE DIPHOSPHATE-LINKED MOIETY X MOTIF 11; NUDT11 (link from Ensembl BioMart) ENSP00000354265 ORTHOMCL10816 jaccard_736
300529: OMIM gene: PURINERGIC RECEPTOR P2Y, G PROTEIN-COUPLED, 10; P2RY10 (link from Ensembl BioMart) ENSP00000341186 ORTHOMCL11638 jaccard_6
ENSP00000171757 ORTHOMCL11638 jaccard_6
300532: OMIM gene: VARIABLY CHARGED, X CHROMOSOME, 2; VCX2 Gene map locus Xp22.3 (link from Ensembl BioMart) ENSP00000321309 ORTHOMCL7341 jaccard_6985
300533: OMIM gene: VARIABLY CHARGED, X CHROMOSOME, 3A; VCX3A Gene map locus Xp22.3 (link from Ensembl BioMart) ENSP00000306277 ORTHOMCL7341 jaccard_14266
300534: OMIM phenotype: MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARID1C-RELATED Gene map locus Xp11.22-p11.21 (link from NCBI) ENSP00000246239 ORTHOMCL408 jaccard_1159
300538: OMIM gene: ARGININE VASOPRESSIN RECEPTOR 2; AVPR2 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000351805
ENSP00000338072 ORTHOMCL9755 jaccard_6
300539: OMIM phenotype: NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS; NSIAD Gene map locus Xq28 (link from NCBI) ENSP00000351805
ENSP00000338072 ORTHOMCL9755 jaccard_6
300541: OMIM gene: SARCOMA, SYNOVIAL, X BREAKPOINT 6; SSX6 (link from Ensembl BioMart) ENSP00000325176 ORTHOMCL222 jaccard_557
300543: OMIM gene: SARCOMA, SYNOVIAL, X BREAKPOINT 8; SSX8 (link from Ensembl BioMart) ENSP00000288839 ORTHOMCL222 jaccard_557
300545: OMIM gene: HEPARAN SULFATE 6-O-SULFOTRANSFERASE 2; HS6ST2 Gene map locus Xq26.2 (link from Ensembl BioMart) ENSP00000324617 ORTHOMCL9730 jaccard_1792
300547: OMIM gene: MST3- AND SOK1-RELATED KINASE (link from Ensembl BioMart) ENSP00000276210 ORTHOMCL926 jaccard_62
300548: OMIM gene: MELANOMA ANTIGEN, FAMILY H, 1; MAGEH1 (link from Ensembl BioMart) ENSP00000343706 ORTHOMCL18432 jaccard_194
300550: OMIM gene: PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED; PHEX Gene map locus Xp22.2-p22.1 (link from Ensembl BioMart) ENSP00000323863 ORTHOMCL22330 jaccard_189
300552: OMIM gene: MIDLINE 1; MID1 Gene map locus Xp22 (link from Ensembl BioMart) ENSP00000312678 ORTHOMCL7778 jaccard_20
300553: OMIM gene: BROMODOMAIN- AND WD REPEAT DOMAIN-CONTAINING PROTEIN 3; BRWD3 (link from Ensembl BioMart) ENSP00000298013 ORTHOMCL2030 jaccard_2513
300554: OMIM phenotype: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (link from NCBI) ENSP00000304257 ORTHOMCL1034 jaccard_243
ENSP00000343213 ORTHOMCL1034 jaccard_243
300556: OMIM gene: ATPase, H+ TRANSPORTING, LYSOSOMAL, ACCESSORY PROTEIN 2; ATP6AP2 Gene map locus Xp11.4 (link from Ensembl BioMart) ENSP00000331703 ORTHOMCL7764 jaccard_5545
300558: OMIM phenotype: MENTAL RETARDATION, X-LINKED 30; MRX30 Gene map locus Xq21.3-q24 (link from NCBI) ENSP00000342543 ORTHOMCL2078 jaccard_62
ENSP00000262836 ORTHOMCL13681 jaccard_62
300559: OMIM phenotype: MUSCLE GLYCOGENOSIS, X-LINKED (link from Ensembl BioMart) ENSP00000262840 ORTHOMCL1127 jaccard_930
300560: OMIM gene: PHD FINGER PROTEIN 8; PHF8 (link from Ensembl BioMart) ENSP00000338868 ORTHOMCL2710 jaccard_489
ENSP00000350676 ORTHOMCL2710 jaccard_489
300561: OMIM gene: SLIT- AND NTRK-LIKE FAMILY, MEMBER 2; SLITRK2 (link from Ensembl BioMart) ENSP00000334374 ORTHOMCL17135 jaccard_7
300562: OMIM gene: SLIT- AND NTRK-LIKE FAMILY, MEMBER 4; SLITRK4 (link from Ensembl BioMart) ENSP00000336627 ORTHOMCL9715 jaccard_7
ENSP00000349400 ORTHOMCL9715 jaccard_7
300564: OMIM gene: TSPY-LIKE 2; TSPYL2 (link from Ensembl BioMart) ENSP00000330901 ORTHOMCL22275
300565: OMIM gene: CHROMOSOME X OPEN READING FRAME 1; CXORF1 Gene map locus Xq27 (link from Ensembl BioMart) ENSP00000332452
300566: OMIM gene: LHFP-LIKE PROTEIN 1; LHFPL1 (link from Ensembl BioMart) ENSP00000341557 ORTHOMCL22291 jaccard_949
300567: OMIM gene: PHOSPHOGLYCERATE MUTASE FAMILY 3 Gene map locus Xq13.3 (link from Ensembl BioMart) ENSP00000334304 ORTHOMCL20472 jaccard_720
300570: OMIM gene: TRANSCRIPTION FACTOR YY2; YY2 (link from Ensembl BioMart) ENSP00000355023
300572: OMIM gene: G PROTEIN-COUPLED RECEPTOR 64; GPR64 Gene map locus Xp21.3 (link from Ensembl BioMart) ENSP00000350680
ENSP00000344972 ORTHOMCL1601 jaccard_59
300574: OMIM gene: CHEMOKINE, CXC MOTIF, RECEPTOR 3; CXCR3 Gene map locus Xq13 (link from Ensembl BioMart) ENSP00000335095 ORTHOMCL14105 jaccard_6
300576: OMIM gene: ZINC FINGER DHHC DOMAIN-CONTAINING PROTEIN 15; ZDHHC15 Gene map locus Xq13.3 (link from Ensembl BioMart) ENSP00000218506 ORTHOMCL19891 jaccard_108
300577: OMIM phenotype: MENTAL RETARDATION, X-LINKED 91; MRX91 Gene map locus Xq13.3 (link from NCBI) ENSP00000218506 ORTHOMCL19891 jaccard_108
300578: OMIM phenotype: Xp11.3 DELETION SYNDROME (link from NCBI) ENSP00000218340 ORTHOMCL7222 jaccard_2110
300584: OMIM phenotype: IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA Gene map locus Xq28 (link from NCBI) ENSP00000263518 ORTHOMCL17310
301000: OMIM phenotype: WISKOTT-ALDRICH SYNDROME; WAS Gene map locus Xp11.23-p11.22 (link from NCBI) ENSP00000317862 ORTHOMCL13483 jaccard_11979
301040: OMIM phenotype: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED; ATRX Gene map locus Xq13 (link from NCBI) ENSP00000308619 ORTHOMCL3160 jaccard_48
ENSP00000319106 ORTHOMCL3160 jaccard_48
301050: OMIM phenotype: ALPORT SYNDROME, X-LINKED; ATS ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS, INCLUDED; ASLHN, INCLUDED; ASLN, INCLUDED Gene map locus Xq22.3 (link from NCBI) ENSP00000331902 ORTHOMCL92 jaccard_0
ENSP00000354505 ORTHOMCL92 jaccard_0
ENSP00000349311 ORTHOMCL92 jaccard_0
ENSP00000343774 jaccard_0
301200: OMIM phenotype: AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH, INCLUDED Gene map locus Xp22.3-p22.1 (link from NCBI) ENSP00000245434 ORTHOMCL8362 jaccard_5932
ENSP00000335346 ORTHOMCL8362 jaccard_5932
ENSP00000335312 ORTHOMCL8362 jaccard_5932
301300: OMIM gene: ANEMIA, SIDEROBLASTIC, X-LINKED DELTA-AMINOLEVULINATE SYNTHASE 2, INCLUDED; ALAS2, INCLUDED Gene map locus Xp11.21 (link from Ensembl BioMart) ENSP00000332369 ORTHOMCL2360 jaccard_426
ENSP00000350830 ORTHOMCL2360 jaccard_426
ENSP00000337131 ORTHOMCL2360 jaccard_426
301310: OMIM phenotype: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT Gene map locus Xq13.1-q13.3 (link from NCBI) ENSP00000253577 ORTHOMCL1989 jaccard_44
301500: OMIM gene: FABRY DISEASE GALACTOSIDASE, ALPHA, INCLUDED; GLA, INCLUDED Gene map locus Xq22 (link from Ensembl BioMart) ENSP00000218516 ORTHOMCL1299 jaccard_1743
301770: OMIM gene: ARRESTIN 3, RETINAL; ARR3 Gene map locus Xcen-q21 (link from Ensembl BioMart) ENSP00000311538 ORTHOMCL22627 jaccard_1066
301870: OMIM gene: BIGLYCAN; BGN Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000327336 ORTHOMCL11108 jaccard_7
ENSP00000342318 ORTHOMCL11108 jaccard_7
301900: OMIM phenotype: BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS Gene map locus Xq26.3 (link from NCBI) ENSP00000329097 ORTHOMCL14571 jaccard_3103
ENSP00000354984 jaccard_3103
302020: OMIM gene: CALBINDIN 3; CALB3 Gene map locus Xp (link from Ensembl BioMart) ENSP00000304641 ORTHOMCL23245 jaccard_302
302045: OMIM phenotype: CARDIOMYOPATHY, DILATED, 3B; CMD3B Gene map locus Xp21.2 (link from NCBI) ENSP00000340057 ORTHOMCL994 jaccard_3
ENSP00000355035 ORTHOMCL994 jaccard_644
ENSP00000354923 ORTHOMCL994 jaccard_3
ENSP00000354515 ORTHOMCL994 jaccard_644
ENSP00000354464 ORTHOMCL994 jaccard_644
ENSP00000350765 ORTHOMCL994 jaccard_3
ENSP00000352894 ORTHOMCL994 jaccard_3
302060: OMIM phenotype: BARTH SYNDROME; BTHS Gene map locus Xq28 (link from NCBI) ENSP00000299328 ORTHOMCL4282 jaccard_1878
ENSP00000218246 ORTHOMCL4282 jaccard_1878
ENSP00000338891 ORTHOMCL4282 jaccard_1878
302350: OMIM phenotype: CATARACT-DENTAL SYNDROME Gene map locus Xp22.13 (link from NCBI) ENSP00000343875 ORTHOMCL7463 jaccard_4613
302650: OMIM gene: CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 1; CDR1 Gene map locus Xq27.1-q27.2 (link from Ensembl BioMart) ENSP00000355400
302800: OMIM phenotype: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED, 1; CMTX1 Gene map locus Xq13.1 (link from NCBI) ENSP00000338947 ORTHOMCL10214 jaccard_152
ENSP00000354900 ORTHOMCL10214 jaccard_152
302910: OMIM gene: CHLORIDE CHANNEL 4; CLCN4 Gene map locus Xp22.3 (link from Ensembl BioMart) ENSP00000262649 ORTHOMCL1034 jaccard_243
302950: OMIM phenotype: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Gene map locus Xp22.3 (link from NCBI) ENSP00000354503 ORTHOMCL3888 jaccard_197
302960: OMIM phenotype: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2 Gene map locus Xp11.23-p11.22 (link from NCBI) ENSP00000276096 ORTHOMCL11547 jaccard_3786
303100: OMIM phenotype: CHOROIDEREMIA; CHM CHOROIDAL SCLEROSIS, INCLUDED Gene map locus Xq21.2 (link from NCBI) ENSP00000350386 ORTHOMCL6737 jaccard_1062
303350: OMIM phenotype: MASA SYNDROME Gene map locus Xq28 (link from NCBI) ENSP00000354712 ORTHOMCL1418 jaccard_2
ENSP00000355380 ORTHOMCL1418 jaccard_2
303400: OMIM phenotype: CLEFT PALATE, X-LINKED; CPX CLEFT PALATE WITH ANKYLOGLOSSIA, INCLUDED Gene map locus Xq21.3, Xq12-q21 (link from NCBI) ENSP00000241607 ORTHOMCL11281 jaccard_166
303600: OMIM phenotype: COFFIN-LOWRY SYNDROME; CLS Gene map locus Xp22.2-p22.1 (link from NCBI) ENSP00000316010 ORTHOMCL643 jaccard_29
303630: OMIM gene: COLLAGEN, TYPE IV, ALPHA-5; COL4A5 Gene map locus Xq22.3 (link from Ensembl BioMart) ENSP00000343774 jaccard_0
ENSP00000331902 ORTHOMCL92 jaccard_0
ENSP00000349311 ORTHOMCL92 jaccard_0
ENSP00000354505 ORTHOMCL92 jaccard_0
303631: OMIM gene: COLLAGEN, TYPE IV, ALPHA-6; COL4A6 Gene map locus Xq22.3 (link from Ensembl BioMart) ENSP00000355057 ORTHOMCL92 jaccard_0
ENSP00000355107 ORTHOMCL92 jaccard_0
ENSP00000334733 ORTHOMCL92 jaccard_0
303700: OMIM phenotype: COLORBLINDNESS, BLUE-MONO-CONE-MONOCHROMATIC TYPE; CBBM RED AND GREEN PIGMENT GENES, CONTROLLER OF, INCLUDED Gene map locus Xq28, Xq28 (link from NCBI) ENSP00000218195 ORTHOMCL5125 jaccard_6
ENSP00000276343 ORTHOMCL5125 jaccard_6
ENSP00000276348 ORTHOMCL5125 jaccard_6
303800: OMIM gene: COLORBLINDNESS, PARTIAL, DEUTAN SERIES; CBD OPSIN 1, MEDIUM-WAVE-SENSITIVE, INCLUDED; OPN1MW, INCLUDED Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000276348 ORTHOMCL5125 jaccard_6
ENSP00000276343 ORTHOMCL5125 jaccard_6
303900: OMIM gene: COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP OPSIN1, LONG-WAVE-SENSITIVE, INCLUDED; OPN1LW, INCLUDED Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000218195 ORTHOMCL5125 jaccard_6
304020: OMIM phenotype: CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 CONE DYSTROPHY, X-LINKED, 1; COD1 Gene map locus Xp21.1 (link from NCBI) ENSP00000343671 ORTHOMCL3294 jaccard_13711
ENSP00000322219 ORTHOMCL3294 jaccard_2932
ENSP00000339531 ORTHOMCL3294 jaccard_231
304040: OMIM gene: GAP JUNCTION PROTEIN, BETA-1; GJB1 Gene map locus Xq13.1 (link from Ensembl BioMart) ENSP00000338947 ORTHOMCL10214 jaccard_152
ENSP00000354900 ORTHOMCL10214 jaccard_152
304110: OMIM phenotype: CRANIOFRONTONASAL SYNDROME; CFNS Gene map locus Xq12, Xp22 (link from NCBI) ENSP00000204961 ORTHOMCL11557 jaccard_1377
304150: OMIM phenotype: CUTIS LAXA, X-LINKED Gene map locus Xq12-q13 (link from NCBI) ENSP00000345728 ORTHOMCL817 jaccard_30
304400: OMIM phenotype: DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION PERILYMPHATIC GUSHER DURING STAPES SURGERY, INCLUDED Gene map locus Xq21.1 (link from NCBI) ENSP00000353195 ORTHOMCL18864 jaccard_232
304700: OMIM phenotype: MOHR-TRANEBJAERG SYNDROME; MTS Gene map locus Xq22 (link from NCBI) ENSP00000247385 ORTHOMCL2050 jaccard_1309
304790: OMIM phenotype: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX ISLETS OF LANGERHANS, ABSENCE OF, INCLUDED Gene map locus Xp11.23-q13.3 (link from NCBI) ENSP00000276059 ORTHOMCL25036 jaccard_12268
304800: OMIM phenotype: DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED Gene map locus Xq28 (link from NCBI) ENSP00000351805
ENSP00000338072 ORTHOMCL9755 jaccard_6
305000: OMIM phenotype: DYSKERATOSIS CONGENITA, X-LINKED; DKC Gene map locus Xq28 (link from NCBI) ENSP00000253127 ORTHOMCL3808 jaccard_3017
305100: OMIM phenotype: ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1 Gene map locus Xq12-q13.1 (link from NCBI) ENSP00000289824 ORTHOMCL21247 jaccard_0
ENSP00000340611
305360: OMIM gene: MEMBRANE PROTEIN, PALMITOYLATED 1; MPP1 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000253131 ORTHOMCL14295 jaccard_33
305370: OMIM gene: TISSUE INHIBITOR OF METALLOPROTEINASE 1; TIMP1 Gene map locus Xp11.3-p11.23 (link from Ensembl BioMart) ENSP00000218388 ORTHOMCL18429 jaccard_1812
305371: OMIM gene: GATA-BINDING PROTEIN 1; GATA1 Gene map locus Xp11.23 (link from Ensembl BioMart) ENSP00000218266 ORTHOMCL24109 jaccard_990
305390: OMIM phenotype: EXUDATIVE VITREORETINOPATHY, FAMILIAL, X-LINKED RECESSIVE; EVR2 Gene map locus Xp11.4 (link from NCBI) ENSP00000244349 ORTHOMCL11321 jaccard_7332
305400: OMIM gene: FACIOGENITAL DYSPLASIA FGD1 GENE, INCLUDED; FGD1, INCLUDED Gene map locus Xp11.21 (link from Ensembl BioMart) ENSP00000218425 ORTHOMCL14288 jaccard_55
305660: OMIM gene: GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-3; GABRA3 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000262857 ORTHOMCL16591 jaccard_32
305670: OMIM gene: GASTRIN-RELEASING PEPTIDE RECEPTOR; GRPR Gene map locus Xp22.3-p21.2 (link from Ensembl BioMart) ENSP00000246237 ORTHOMCL11293 jaccard_6
305700: OMIM phenotype: SERTOLI CELL-ONLY SYNDROME Gene map locus Xq26.2 (link from NCBI) ENSP00000257011 ORTHOMCL13917 jaccard_2664
305900: OMIM gene: GLUCOSE-6-PHOSPHATE DEHYDROGENASE; G6PD ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY, INCLUDED Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000342362 ORTHOMCL2233 jaccard_1199
305915: OMIM gene: GLUTAMATE RECEPTOR, IONOTROPIC, AMPA 3; GRIA3 Gene map locus Xq25-q26 (link from Ensembl BioMart) ENSP00000264357 ORTHOMCL68 jaccard_84
ENSP00000335428 ORTHOMCL21430 jaccard_13020
ENSP00000326000 ORTHOMCL68 jaccard_84
305990: OMIM gene: GLYCINE RECEPTOR, ALPHA-2 SUBUNIT; GLRA2 Gene map locus Xp22.1-p21.2 (link from Ensembl BioMart) ENSP00000218075 ORTHOMCL5896 jaccard_32