Human disease genes 300139-300269

300004-300138 --- 300272-300392

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
300139: OMIM gene: IMMUNOGLOBULIN-BINDING PROTEIN 1; IGBP1 Gene map locus Xq13.1-q13.3 (link from Ensembl BioMart) ENSP00000348784 ORTHOMCL3406 jaccard_3014
ENSP00000337270 ORTHOMCL3406 jaccard_3014
300141: OMIM gene: PROTEIN PHOSPHATASE 6, CATALYTIC SUBUNIT; PPP6C Gene map locus Xq22.3 (link from Ensembl BioMart) ENSP00000238362 ORTHOMCL4245 jaccard_68
300142: OMIM gene: p21-ACTIVATED KINASE 3; PAK3 Gene map locus Xq21.3-q24 (link from Ensembl BioMart) ENSP00000342543 ORTHOMCL2078 jaccard_62
ENSP00000262836 ORTHOMCL13681 jaccard_62
300143: OMIM phenotype: MENTAL RETARDATION, X-LINKED 21; MRX21 Gene map locus Xp22.1-p21.3 (link from NCBI) ENSP00000305200 ORTHOMCL15491 jaccard_1009
300144: OMIM gene: GLUTAMATE DEHYDROGENASE 2; GLUD2 Gene map locus Xq25 (link from Ensembl BioMart) ENSP00000327589 ORTHOMCL1008 jaccard_1417
300145: OMIM gene: X-PROLYL AMINOPEPTIDASE 2; XPNPEP2 ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO, INCLUDED Gene map locus Xq25 (link from Ensembl BioMart) ENSP00000241572 ORTHOMCL12288 jaccard_1375
300146: OMIM gene: CALPAIN 6; CAPN6 (link from Ensembl BioMart) ENSP00000317214 ORTHOMCL21242 jaccard_213
300149: OMIM gene: CBP/p300-INTERACTING TRANSACTIVATOR WITH GLU/ASP-RICH C-TERMINAL DOMAIN, 1; CITED1 Gene map locus Xq13.1 (link from Ensembl BioMart) ENSP00000246139 ORTHOMCL15840 jaccard_3937
300150: OMIM gene: SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER A5; SLC25A5 Gene map locus Xq24-q26 (link from Ensembl BioMart) ENSP00000005593 ORTHOMCL410 jaccard_27
300151: OMIM gene: SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER A6; SLC25A6 Gene map locus Xp22.32 (link from Ensembl BioMart) ENSP00000353450 jaccard_27
300152: OMIM gene: MELANOMA ANTIGEN, FAMILY B, 3; MAGEB3 Gene map locus Xp21.3 (link from Ensembl BioMart) ENSP00000355198 ORTHOMCL17943 jaccard_194
300153: OMIM gene: MELANOMA ANTIGEN, FAMILY B, 4; MAGEB4 Gene map locus Xp21.3 (link from Ensembl BioMart) ENSP00000354985 ORTHOMCL5580 jaccard_194
300154: OMIM gene: ESX1-LIKE PROTEIN; ESX1L Gene map locus Xq22.1-q22.3 (link from Ensembl BioMart) ENSP00000243304 ORTHOMCL17805
300157: OMIM gene: FATTY ACID CoA LIGASE, LONG CHAIN 4; FACL4 Gene map locus Xq22.3 (link from Ensembl BioMart) ENSP00000262835 ORTHOMCL529 jaccard_47
ENSP00000339787 ORTHOMCL529 jaccard_47
300160: OMIM gene: DEAD/H BOX 3, X-LINKED; DDX3 Gene map locus Xp11.3-p11.23 (link from Ensembl BioMart) ENSP00000310870 ORTHOMCL559 jaccard_31
ENSP00000244357 ORTHOMCL559 jaccard_31
300161: OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 2, SUBUNIT 3; EIF2S3 Gene map locus Xp22.2-p22.1 (link from Ensembl BioMart) ENSP00000253039 ORTHOMCL1643 jaccard_120
300162: OMIM gene: ACETYLSEROTONIN METHYLTRANSFERASE-LIKE; ASMTL Gene map locus Xpter-p22.32 (link from Ensembl BioMart) ENSP00000344560 ORTHOMCL4701 jaccard_853
300163: OMIM gene: FOUR-AND-A-HALF LIM DOMAINS 1; FHL1 Gene map locus Xq27.2 (link from Ensembl BioMart) ENSP00000071281 ORTHOMCL18235 jaccard_37
ENSP00000257004 jaccard_37
ENSP00000217908 ORTHOMCL8827 jaccard_37
300164: OMIM gene: INACTIVATION ESCAPE 1; INE1 (link from Ensembl BioMart) ENSP00000354507
300166: OMIM phenotype: OCULOFACIOCARDIODENTAL SYNDROME Gene map locus Xp11.4 (link from NCBI) ENSP00000354820 ORTHOMCL5894 jaccard_6292
300167: OMIM gene: HEPHAESTIN; HEPH Gene map locus Xq11-q12 (link from Ensembl BioMart) ENSP00000343939 ORTHOMCL1513 jaccard_716
ENSP00000263490 ORTHOMCL1513 jaccard_716
ENSP00000355282 ORTHOMCL1513 jaccard_716
ENSP00000337418 ORTHOMCL1513 jaccard_716
300168: OMIM gene: GLYPICAN 4; GPC4 Gene map locus Xq26 (link from Ensembl BioMart) ENSP00000262862 ORTHOMCL3565 jaccard_1068
300169: OMIM gene: PROGRAMMED CELL DEATH 8; PDCD8 Gene map locus Xq25-q26 (link from Ensembl BioMart) ENSP00000287295 ORTHOMCL7921 jaccard_490
ENSP00000316320
ENSP00000315122 ORTHOMCL7921 jaccard_490
300170: OMIM gene: CHROMOSOME X OPEN READING FRAME 5; CXORF5 Gene map locus Xp22.3-p22.2 (link from Ensembl BioMart) ENSP00000319207 ORTHOMCL10464 jaccard_3
ENSP00000344314
300171: OMIM gene: MYOTUBULARIN-RELATED PROTEIN 1; MTMR1 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000317099 ORTHOMCL14415 jaccard_221
300172: OMIM gene: CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; CASK Gene map locus Xp11.4 (link from Ensembl BioMart) ENSP00000354641 ORTHOMCL3850 jaccard_33
300174: OMIM gene: MELANOMA ANTIGEN, FAMILY A, 3; MAGEA3 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000348728 ORTHOMCL496 jaccard_194
300175: OMIM gene: MELANOMA ANTIGEN, FAMILY A, 4; MAGEA4 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000276344 ORTHOMCL496 jaccard_194
ENSP00000353379 ORTHOMCL496 jaccard_194
300176: OMIM gene: MELANOMA ANTIGEN, FAMILY A, 6; MAGEA6 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000329199 ORTHOMCL496 jaccard_194
300177: OMIM gene: MELANOMA ANTIGEN, FAMILY A, 12; MAGEA12 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000350592 ORTHOMCL20075
300178: OMIM gene: AC-LIKE TRANSPOSABLE ELEMENT; ALTE (link from Ensembl BioMart) ENSP00000354389 ORTHOMCL468 jaccard_335
ENSP00000305414 ORTHOMCL468 jaccard_335
300180: OMIM gene: ARYLSULFATASE E; ARSE Gene map locus Xp22.3 (link from Ensembl BioMart) ENSP00000354503 ORTHOMCL3888 jaccard_197
300182: OMIM gene: COFACTOR REQUIRED FOR SP1 TRANSCRIPTIONAL ACTIVATION, SUBUNIT 2; CRSP2 Gene map locus Xp11.4-p11.2 (link from Ensembl BioMart) ENSP00000323720 ORTHOMCL3490 jaccard_5694
300183: OMIM phenotype: NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, X-LINKED; LVNCX Gene map locus Xq28 (link from NCBI) ENSP00000299328 ORTHOMCL4282 jaccard_1878
ENSP00000218246 ORTHOMCL4282 jaccard_1878
ENSP00000338891 ORTHOMCL4282 jaccard_1878
300185: OMIM gene: A-KINASE ANCHOR PROTEIN 4; AKAP4 Gene map locus Xp11.2 (link from Ensembl BioMart) ENSP00000325764 ORTHOMCL11588 jaccard_4703
ENSP00000351327 ORTHOMCL11588 jaccard_4703
ENSP00000352436 ORTHOMCL11588 jaccard_4703
300186: OMIM gene: EUKARYOTIC TRANSLATION INITIATION FACTOR 1A, X-LINKED; EIF1AX Gene map locus Chr.X (link from Ensembl BioMart) ENSP00000312337 ORTHOMCL1607 jaccard_665
300187: OMIM gene: SUSHI REPEAT-CONTAINING PROTEIN, X CHROMOSOME; SRPX Gene map locus Xp21.1 (link from Ensembl BioMart) ENSP00000218072 ORTHOMCL16336 jaccard_34
300188: OMIM gene: MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE, HOMOLOG OF; MED12 Gene map locus Xq13 (link from Ensembl BioMart) ENSP00000333125 ORTHOMCL2568 jaccard_4406
300190: OMIM gene: SH3-BINDING DOMAIN AND GLUTAMIC ACID-RICH PROTEIN-LIKE PROTEIN; SH3BGRL Gene map locus Xq13.3 (link from Ensembl BioMart) ENSP00000253481 ORTHOMCL9634 jaccard_1101
300191: OMIM gene: TETRASPANIN 6; TSPAN6 Gene map locus Xq22 (link from Ensembl BioMart) ENSP00000003603 ORTHOMCL21101 jaccard_75
300192: OMIM gene: SARCOMA, SYNOVIAL, X BREAKPOINT 2; SSX2 SSX2-SYT FUSION GENE, INCLUDED Gene map locus Xp11.2 (link from Ensembl BioMart) ENSP00000338796 ORTHOMCL222 jaccard_557
ENSP00000252683 ORTHOMCL222 jaccard_557
ENSP00000276049 ORTHOMCL222 jaccard_557
ENSP00000304122 ORTHOMCL222 jaccard_557
ENSP00000338561 ORTHOMCL222 jaccard_557
300193: OMIM gene: HIGH MOBILITY GROUP BOX 3; HMGB3 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000031803 ORTHOMCL184 jaccard_74
300194: OMIM phenotype: AMME COMPLEX Gene map locus Xq22.3 (link from NCBI) ENSP00000339787 ORTHOMCL529 jaccard_47
ENSP00000262844 ORTHOMCL3593 jaccard_2190
ENSP00000326701 ORTHOMCL23774
300195: OMIM phenotype: ALPORT SYNDROME, MENTAL RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS CHROMOSOMAL REGION GENE 1; AMMECR1 Gene map locus Xq22.3 (link from Ensembl BioMart) ENSP00000262844 ORTHOMCL3593 jaccard_2190
300196: OMIM gene: TRANSDUCIN-BETA-LIKE 1, X-LINKED; TBL1X Gene map locus Xp22.3 (link from Ensembl BioMart) ENSP00000217964 ORTHOMCL1846 jaccard_17
300198: OMIM gene: GLYCOGENIN 2; GYG2 Gene map locus Xp22.3 (link from Ensembl BioMart) ENSP00000354624 ORTHOMCL9306 jaccard_935
300199: OMIM gene: RNA-BINDING MOTIF PROTEIN, X CHROMOSOME; RBMX RNA-BINDING MOTIF PROTEIN, X CHROMOSOME, RETROGENE, INCLUDED; RBMXRT, INCLUDED Gene map locus Xq26 (link from Ensembl BioMart) ENSP00000276230 ORTHOMCL7022 jaccard_0
300200: OMIM phenotype: ADRENAL HYPOPLASIA, CONGENITAL; AHC CYTOMEGALIC ADRENOCORTICAL HYPOPLASIA, INCLUDED Gene map locus Xp21.3-p21.2 (link from NCBI) ENSP00000302390 ORTHOMCL18852
300201: OMIM gene: CYSTEINYL LEUKOTRIENE RECEPTOR 1; CYSLTR1 Gene map locus Xq13-q21 (link from Ensembl BioMart) ENSP00000312492 ORTHOMCL15213 jaccard_6
300202: OMIM gene: SEDLIN; SEDL Gene map locus Xp22.2-p22.1 (link from Ensembl BioMart) ENSP00000350472 ORTHOMCL13735 jaccard_1553
ENSP00000310153 ORTHOMCL6772 jaccard_1553
300203: OMIM gene: CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5 Gene map locus Xp22 (link from Ensembl BioMart) ENSP00000262697 ORTHOMCL11520
300204: OMIM gene: MIDLINE 2 Gene map locus Xq22 (link from Ensembl BioMart) ENSP00000354949 ORTHOMCL10681 jaccard_20
ENSP00000354420 ORTHOMCL10681 jaccard_20
300205: OMIM gene: EMOPAMIL-BINDING PROTEIN; EBP Gene map locus Xp11.23-p11.22 (link from Ensembl BioMart) ENSP00000276096 ORTHOMCL11547 jaccard_3786
300206: OMIM gene: INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; IL1RAPL1 IL1RAPL1/DMD FUSION GENE, INCLUDED Gene map locus Xp22.1-p21.3 (link from Ensembl BioMart) ENSP00000305200 ORTHOMCL15491 jaccard_1009
300207: OMIM gene: G PROTEIN-COUPLED RECEPTOR 50; GPR50 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000218316 ORTHOMCL15873
300208: OMIM gene: SEX COMB ON MIDLEG, DROSOPHILA, HOMOLOG-LIKE 2; SCML2 Gene map locus Xp22 (link from Ensembl BioMart) ENSP00000251900 ORTHOMCL6665 jaccard_411
ENSP00000336869 ORTHOMCL21137 jaccard_4078
300210: OMIM phenotype: MENTAL RETARDATION, X-LINKED 58; MRX58 Gene map locus Xp22-q12 (link from Ensembl BioMart) ENSP00000286824 ORTHOMCL15473 jaccard_75
300212: OMIM gene: REGUCALCIN; RGN Gene map locus Xp11.2-q11.2 (link from Ensembl BioMart) ENSP00000338400 ORTHOMCL2826 jaccard_2508
ENSP00000253303 ORTHOMCL2826 jaccard_2508
300213: OMIM gene: CAAX BOX PROTEIN 1; CXX1 Gene map locus Xq26 (link from Ensembl BioMart) ENSP00000257013 ORTHOMCL24461 jaccard_13799
300214: OMIM gene: PLEXIN B3; PLXNB3 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000355378 ORTHOMCL2364 jaccard_348
ENSP00000355029 ORTHOMCL2364 jaccard_348
300215: OMIM phenotype: LISSENCEPHALY, X-LINKED, WITH AMBIGUOUS GENITALIA; XLAG HYDRANENCEPHALY AND ABNORMAL GENITALIA, INCLUDED Gene map locus Xp22.13 (link from NCBI) ENSP00000005545 ORTHOMCL6621 jaccard_9621
300217: OMIM gene: RETINOIC ACID-INDUCED 2; RAI2 Gene map locus Xp22 (link from Ensembl BioMart) ENSP00000333456 ORTHOMCL10413 jaccard_9580
ENSP00000353106 ORTHOMCL10413 jaccard_9580
300218: OMIM phenotype: MENTAL RETARDATION, X-LINKED, SYNDROMIC 7; MRXS7 Gene map locus Xq11, Xp11.3-q22 (link from NCBI) ENSP00000286824 ORTHOMCL15473 jaccard_75
300222: OMIM gene: INTEGRAL MEMBRANE PROTEIN 2A; ITM2A Gene map locus Xq13.3-q21.2 (link from Ensembl BioMart) ENSP00000262789 ORTHOMCL22188 jaccard_1679
300223: OMIM gene: MELANOMA ANTIGEN, FAMILY C, 1; MAGEC1 Gene map locus Xq26 (link from Ensembl BioMart) ENSP00000285879 ORTHOMCL496
300224: OMIM gene: MELANOMA ANTIGEN, FAMILY D, 1; MAGED1 Gene map locus Xp11.23 (link from Ensembl BioMart) ENSP00000325333 ORTHOMCL17260 jaccard_194
ENSP00000325280 ORTHOMCL17260 jaccard_194
ENSP00000352087
300225: OMIM gene: NADPH OXIDASE 1; NOX1 NOH1, LONG ISOFORM, INCLUDED; NOH1L, INCLUDED Gene map locus Xq22 (link from Ensembl BioMart) ENSP00000217884 ORTHOMCL15285 jaccard_448
ENSP00000217885 ORTHOMCL15285 jaccard_448
300226: OMIM gene: SMALL MUSCLE PROTEIN, X-LINKED; SMPX Gene map locus Xp22.1 (link from Ensembl BioMart) ENSP00000265786 ORTHOMCL9878 jaccard_6026
300227: OMIM gene: SEX COMB ON MIDLEG, DROSOPHILA, HOMOLOG-LIKE 1; SCML1 Gene map locus Xp22.2-p22.1 (link from Ensembl BioMart) ENSP00000051659 jaccard_4998
300229: OMIM gene: VARIABLY CHARGED, X CHROMOSOME; VCX Gene map locus Xp22.3 (link from Ensembl BioMart) ENSP00000306277 ORTHOMCL7341 jaccard_14266
ENSP00000344144 ORTHOMCL7341 jaccard_14266
300230: OMIM gene: CARBONIC ANHYDRASE VB, MITOCHONDRIAL; CA5B Gene map locus Xp22.1 (link from Ensembl BioMart) ENSP00000314099 ORTHOMCL20034 jaccard_171
300231: OMIM gene: SOLUTE CARRIER FAMILY 9, ISOFORM A6; SLC9A6 Gene map locus Chr.X (link from Ensembl BioMart) ENSP00000354847 ORTHOMCL587 jaccard_314
300234: OMIM gene: UBIQUITOUSLY EXPRESSED TRANSCRIPT; UXT (link from Ensembl BioMart) ENSP00000327797 ORTHOMCL5614 jaccard_1206
ENSP00000337393 ORTHOMCL5614 jaccard_1206
300235: OMIM gene: ZINC FINGER-ENCODING GENE, X-LINKED, DUPLICATED, A; ZXDA Gene map locus Xp11.21 (link from Ensembl BioMart) ENSP00000353082 ORTHOMCL4495 jaccard_10951
ENSP00000351530 ORTHOMCL4495 jaccard_10951
300239: OMIM gene: EPIDERMAL GROWTH FACTOR-LIKE 6; EGFL6 Gene map locus Xp22 (link from Ensembl BioMart) ENSP00000354994 ORTHOMCL15792 jaccard_2735
ENSP00000355126 ORTHOMCL15792 jaccard_2735
300240: OMIM phenotype: HOYERAAL-HREIDARSSON SYNDROME; HHS Gene map locus Xq28 (link from NCBI) ENSP00000253127 ORTHOMCL3808 jaccard_3017
300241: OMIM gene: G PROTEIN-COUPLED RECEPTOR 34; GPR34 Gene map locus Xp11.4 (link from Ensembl BioMart) ENSP00000303771 ORTHOMCL11460 jaccard_6
300242: OMIM gene: SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, BRAIN), MEMBER 14; SLC25A14 Gene map locus Xq24 (link from Ensembl BioMart) ENSP00000218197 ORTHOMCL8614 jaccard_27
ENSP00000354455 ORTHOMCL8614 jaccard_27
300246: OMIM gene: PROTOCADHERIN 11, X-LINKED; PCDH11X Gene map locus Xq21.3 (link from Ensembl BioMart) ENSP00000355105 ORTHOMCL1040 jaccard_14
ENSP00000218413 ORTHOMCL1040 jaccard_14
ENSP00000354439 ORTHOMCL1040 jaccard_14
ENSP00000355040 ORTHOMCL1040 jaccard_14
ENSP00000355300 ORTHOMCL1040 jaccard_14
300247: OMIM gene: BONE MORPHOGENETIC PROTEIN 15; BMP15 Gene map locus Xp11.2 (link from Ensembl BioMart) ENSP00000252677 ORTHOMCL22022 jaccard_11535
300248: OMIM gene: INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE OF, GAMMA; IKBKG Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000263518 ORTHOMCL17310
300249: OMIM gene: TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 17, YEAST, HOMOLOG OF, B; TIMM17B Gene map locus Xp11.2 (link from Ensembl BioMart) ENSP00000263235 ORTHOMCL1499 jaccard_602
300252: OMIM gene: PEPTIDYL-PROLYL CIS/TRANS ISOMERASE, NIMA-INTERACTING, 4; PIN4 Gene map locus Xq13 (link from Ensembl BioMart) ENSP00000218432 ORTHOMCL7093 jaccard_2237
300253: OMIM gene: SUPERCONSERVED RECEPTOR EXPRESSED IN BRAIN 3; SREB3 Gene map locus Xp11 (link from Ensembl BioMart) ENSP00000331600 ORTHOMCL14099 jaccard_19
300254: OMIM gene: SUPPRESSOR OF VARIEGATION 3-9, DROSOPHILA, HOMOLOG OF, 1; SUV39H1 Gene map locus Xp11.23 (link from Ensembl BioMart) ENSP00000332183 ORTHOMCL7863 jaccard_752
300255: OMIM gene: O-LINKED N-ACETYLGLUCOSAMINE TRANSFERASE; OGT Gene map locus Xq13 (link from Ensembl BioMart) ENSP00000276103
ENSP00000341535 ORTHOMCL2511 jaccard_1081
300256: OMIM gene: HYDROXYACYL-CoA DEHYDROGENASE, TYPE II; HADH2 Gene map locus Xp11.2 (link from Ensembl BioMart) ENSP00000168216 ORTHOMCL10058 jaccard_21
300257: OMIM phenotype: DANON DISEASE Gene map locus Xq24 (link from NCBI) ENSP00000200639 ORTHOMCL9626 jaccard_1947
ENSP00000007752 ORTHOMCL9626 jaccard_1947
300263: OMIM phenotype: SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME Gene map locus Xp11.3-q21.3 (link from NCBI) ENSP00000338868 ORTHOMCL2710 jaccard_489
ENSP00000350676 ORTHOMCL2710 jaccard_489
300264: OMIM gene: UBIQUILIN 2; UBQLN2 Gene map locus Xp11.23-p11.1 (link from Ensembl BioMart) ENSP00000345195 ORTHOMCL1181 jaccard_449
300265: OMIM gene: ZINC FINGER PROTEIN OF CEREBELLUM, 3; ZIC3 Gene map locus Xq26.2 (link from Ensembl BioMart) ENSP00000287538 ORTHOMCL14411 jaccard_2734
300267: OMIM gene: RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; ARHGEF6 Gene map locus Xq26 (link from Ensembl BioMart) ENSP00000354803 ORTHOMCL12932 jaccard_55
300269: OMIM gene: HISTONE DEACETYLASE 8 Gene map locus Xq13 (link from Ensembl BioMart) ENSP00000354431 ORTHOMCL16792 jaccard_133