Human disease genes 300393-300520

300272-300392 --- 300521-305990

OMIM ID: disease or gene description Ensembl Peptide ID OrthoMCL Family Jaccard Coefficient Cluster
300393: OMIM gene: G PROTEIN-COUPLED RECEPTOR 101; GPR101 Gene map locus Chr.X (link from Ensembl BioMart) ENSP00000298110 ORTHOMCL11829 jaccard_19
300394: OMIM gene: TAFAZZIN; TAZ Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000338891 ORTHOMCL4282 jaccard_1878
ENSP00000218246 ORTHOMCL4282 jaccard_1878
ENSP00000299328 ORTHOMCL4282 jaccard_1878
300395: OMIM gene: THO COMPLEX, SUBUNIT 2; THOC2 Gene map locus Chr.X (link from Ensembl BioMart) ENSP00000347959 ORTHOMCL2966 jaccard_2525
300396: OMIM gene: CANCER/TESTIS ANTIGEN 2; CTAG2 (link from Ensembl BioMart) ENSP00000247306 ORTHOMCL7909
ENSP00000276349 ORTHOMCL7909 jaccard_2336
300398: OMIM gene: B-CELL RECEPTOR-ASSOCIATED PROTEIN 31; BCAP31 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000343458 ORTHOMCL6479 jaccard_2820
300399: OMIM gene: PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 1, INHIBITOR OF: PCSK1N Gene map locus Xp11.3 (link from Ensembl BioMart) ENSP00000218230 ORTHOMCL18113 jaccard_9358
300400: OMIM phenotype: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 Gene map locus Xq13 (link from NCBI) ENSP00000276110 ORTHOMCL14388 jaccard_963
300401: OMIM gene: PROTEOLIPID PROTEIN 1; PLP1 DM20, INCLUDED Gene map locus Xq22 (link from Ensembl BioMart) ENSP00000305152 ORTHOMCL7313 jaccard_981
ENSP00000354860 ORTHOMCL7313 jaccard_981
300402: OMIM gene: LEUCINE ZIPPER, DOWNREGULATED IN CANCER 1; LDOC1 Gene map locus Xq27 (link from Ensembl BioMart) ENSP00000328305 ORTHOMCL20207 jaccard_5397
300403: OMIM gene: NEURONAL PROTEIN, 17.3-KD (link from Ensembl BioMart) ENSP00000276062 ORTHOMCL5801 jaccard_5203
ENSP00000349820 ORTHOMCL5801 jaccard_5203
300407: OMIM gene: POLYADENYLATE-BINDING PROTEIN, CYTOPLASMIC, 5; PABPC5 Gene map locus Xq21.3 (link from Ensembl BioMart) ENSP00000308012 ORTHOMCL22893 jaccard_0
300409: OMIM gene: MORTALITY FACTOR 4-LIKE PROTEIN 2; MORF4L2 Gene map locus Xq22 (link from Ensembl BioMart) ENSP00000353643 ORTHOMCL13020 jaccard_634
ENSP00000341966 ORTHOMCL13020 jaccard_634
300410: OMIM gene: ANGIOMOTIN; AMOT Gene map locus Chr.X (link from Ensembl BioMart) ENSP00000305557 ORTHOMCL3844
300411: OMIM gene: TRANSFORMING GROWTH FACTOR-BETA-INDUCED FACTOR 2-LIKE, X-LINKED; TGIF2LX Gene map locus Xp21.3 (link from Ensembl BioMart) ENSP00000355119 ORTHOMCL23099 jaccard_1862
300412: OMIM phenotype: MICROPHTHALMIA WITH ASSOCIATED ANOMALIES 2 Gene map locus Xp11.4 (link from NCBI) ENSP00000354820 ORTHOMCL5894 jaccard_6292
300413: OMIM gene: MUSCLEBLIND-LIKE PROTEIN 3; MBNL3 Gene map locus Xq26 (link from Ensembl BioMart) ENSP00000338464 ORTHOMCL10797 jaccard_813
ENSP00000169778 ORTHOMCL10797 jaccard_813
300414: OMIM gene: PHD FINGER PROTEIN 6; PHF6 Gene map locus Xq26.3 (link from Ensembl BioMart) ENSP00000329097 ORTHOMCL14571 jaccard_3103
ENSP00000354984 jaccard_3103
300415: OMIM gene: MYOTUBULARIN; MTM1 Gene map locus Xq28 (link from Ensembl BioMart) ENSP00000301919 ORTHOMCL1691 jaccard_221
300416: OMIM gene: G ANTIGEN, FAMILY D, 3; GAGED3 (link from Ensembl BioMart) ENSP00000352168 ORTHOMCL1255 jaccard_1764
ENSP00000333775 ORTHOMCL1255 jaccard_1764
ENSP00000286049 ORTHOMCL1255 jaccard_1764
300417: OMIM gene: G PROTEIN-COUPLED RECEPTOR-ASSOCIATED SORTING PROTEIN 1; GPRASP1 Gene map locus Xq22 (link from Ensembl BioMart) ENSP00000355146 ORTHOMCL12982 jaccard_397
300418: OMIM gene: G1- TO S-PHASE TRANSITION 2; GSPT2 Gene map locus Xp11.23-p11.21 (link from Ensembl BioMart) ENSP00000341247 ORTHOMCL2548 jaccard_120
300419: OMIM phenotype: MENTAL RETARDATION, X-LINKED 54; MRX54 Gene map locus Xp22.13 (link from NCBI) ENSP00000005545 ORTHOMCL6621 jaccard_9621
300420: OMIM gene: PRAJA 1; PJA1 (link from Ensembl BioMart) ENSP00000355014 ORTHOMCL9336 jaccard_3248
300423: OMIM phenotype: MENTAL RETARDATION, X-LINKED, WITH EPILEPSY; XMRE Gene map locus Xp11.4 (link from NCBI) ENSP00000331703 ORTHOMCL7764 jaccard_5545
300425: OMIM phenotype: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 AUTSX1 Gene map locus Xq13 (link from NCBI) ENSP00000351591 ORTHOMCL196 jaccard_69
ENSP00000350612 ORTHOMCL196 jaccard_69
300427: OMIM gene: NEUROLIGIN 4; NLGN4 Gene map locus Xp22.33 (link from Ensembl BioMart) ENSP00000275857 ORTHOMCL196 jaccard_69
ENSP00000320355 ORTHOMCL196 jaccard_69
300429: OMIM gene: RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 9; ARHGEF9 Gene map locus Chr.X (link from Ensembl BioMart) ENSP00000253401 ORTHOMCL13895 jaccard_55
300432: OMIM phenotype: EPILEPSY, MYOCLONIC, X-LINKED, WITH MENTAL RETARDATION AND SPASTICITY Gene map locus Xp22.13 (link from NCBI) ENSP00000005545 ORTHOMCL6621 jaccard_9621
300434: OMIM phenotype: STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME Gene map locus Xp11.2 (link from NCBI) ENSP00000289292 ORTHOMCL16121 jaccard_1999
300435: OMIM gene: PROGESTERONE RECEPTOR MEMBRANE COMPONENT 1; PGRMC1 Gene map locus Xq22-q24 (link from Ensembl BioMart) ENSP00000217971 ORTHOMCL3090 jaccard_1038
300436: OMIM phenotype: MENTAL RETARDATION, X-LINKED 46; MRX46 Gene map locus Xq26 (link from NCBI) ENSP00000354803 ORTHOMCL12932 jaccard_55
300437: OMIM gene: EMBRYONIC STEM CELL-EXPRESSED RAS; ERAS Gene map locus Xp11.2 (link from Ensembl BioMart) ENSP00000339136 ORTHOMCL18362 jaccard_8
300438: OMIM phenotype: HYDROXYACYL-CoA DEHYDROGENASE, TYPE II, DEFICIENCY Gene map locus Xp11.2 (link from NCBI) ENSP00000168216 ORTHOMCL10058 jaccard_21
300439: OMIM gene: RING FINGER PROTEIN 128; RNF128 Gene map locus Chr.X (link from Ensembl BioMart) ENSP00000316127 jaccard_493
ENSP00000255499 ORTHOMCL16989 jaccard_493
300440: OMIM gene: NUCLEAR FACTOR KAPPA-B-REPRESSING FACTOR (link from Ensembl BioMart) ENSP00000334095 ORTHOMCL8928 jaccard_5512
ENSP00000304803 jaccard_5512
300441: OMIM gene: SH3 PROTEIN EXPRESSED IN LYMPHOCYTES (link from Ensembl BioMart) ENSP00000241573 ORTHOMCL4134 jaccard_2228
300443: OMIM gene: SOLUTE CARRIER FAMILY 7, MEMBER 3; SLC7A3 (link from Ensembl BioMart) ENSP00000298085 ORTHOMCL14786 jaccard_107
300444: OMIM gene: SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER), MEMBER 14; SLC6A14 Gene map locus Xq23-q24 (link from Ensembl BioMart) ENSP00000262822 ORTHOMCL18194 jaccard_89
300445: OMIM gene: H2A HISTONE FAMILY, MEMBER B; H2AFB (link from Ensembl BioMart) ENSP00000334898 ORTHOMCL11451 jaccard_91
ENSP00000346509 ORTHOMCL11451 jaccard_91
300446: OMIM gene: OVARY-, TESTIS-, AND EPIDIDYMIS-EXPRESSED GENE Gene map locus Xq24 (link from Ensembl BioMart) ENSP00000217999 jaccard_3653
300447: OMIM gene: HOMEOBOX PROTEIN, PEPP SUBFAMILY, 2 Gene map locus Xq24 (link from Ensembl BioMart) ENSP00000254025
300448: OMIM phenotype: ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS Gene map locus Xq13 (link from NCBI) ENSP00000308619 ORTHOMCL3160 jaccard_48
ENSP00000319106 ORTHOMCL3160 jaccard_48
300450: OMIM gene: FETAL AND ADULT TESTIS-EXPRESSED GENE (link from Ensembl BioMart) ENSP00000276341 ORTHOMCL24104 jaccard_14396
300451: OMIM gene: ED1 GENE; ED1 ECTODYSPLASIN A1 ISOFORM, INCLUDED Gene map locus Xq12-q13.1 (link from Ensembl BioMart) ENSP00000289824 ORTHOMCL21247 jaccard_0
ENSP00000340611
300452: OMIM gene: INHIBITOR OF GROWTH, X-LINKED; INGX Gene map locus Xq12 (link from Ensembl BioMart) ENSP00000352887
300453: OMIM gene: FAMILY WITH SEQUENCE SIMILARITY 50, MEMBER A; FAM50A (link from Ensembl BioMart) ENSP00000158526 ORTHOMCL6243 jaccard_8814
300455: OMIM phenotype: RETINITIS PIGMENTOSA, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS RETINITIS PIGMENTOSA, X-LINKED, WITH DEAFNESS AND SINORESPIRATORY INFECTIONS, INCLUDED Gene map locus Xp21.1 (link from NCBI) ENSP00000339531 ORTHOMCL3294 jaccard_231
ENSP00000322219 ORTHOMCL3294 jaccard_2932
ENSP00000343671 ORTHOMCL3294 jaccard_13711
300456: OMIM gene: CYCLIN B3; CCNB3 (link from Ensembl BioMart) ENSP00000338682 ORTHOMCL118 jaccard_129
ENSP00000276014 ORTHOMCL118
ENSP00000333237
300457: OMIM gene: NHS GENE; NHS Gene map locus Xp22.13 (link from Ensembl BioMart) ENSP00000343875 ORTHOMCL7463 jaccard_4613
300458: OMIM phenotype: MENTAL RETARDATION, X-LINKED 16; MRX16 Gene map locus Xq28 (link from NCBI) ENSP00000301948 ORTHOMCL12144 jaccard_8147
300459: OMIM gene: TENOMODULIN (link from Ensembl BioMart) ENSP00000003616 ORTHOMCL19672 jaccard_6042
300460: OMIM gene: PROTOCADHERIN 19; PCDH19 Gene map locus Xq13.3 (link from Ensembl BioMart) ENSP00000255531 ORTHOMCL9939 jaccard_14
300461: OMIM gene: ORNITHINE CARBAMOYLTRANSFERASE; OTC Gene map locus Xp21.1 (link from Ensembl BioMart) ENSP00000039007 ORTHOMCL8419 jaccard_4550
300462: OMIM gene: A-KINASE ANCHOR PROTEIN 14; AKAP14 Gene map locus Xq24 (link from Ensembl BioMart) ENSP00000334550 ORTHOMCL9309 jaccard_8208
ENSP00000334680 ORTHOMCL9309 jaccard_8208
300463: OMIM gene: POLYGLUTAMINE-BINDING PROTEIN 1; PQBP1 Gene map locus Xp11.23 (link from Ensembl BioMart) ENSP00000218224 ORTHOMCL4785 jaccard_3874
300466: OMIM gene: MELANOMA ANTIGEN, FAMILY B, 5; MAGEB5 Gene map locus Xp22 (link from Ensembl BioMart) ENSP00000343373
300467: OMIM gene: MELANOMA ANTIGEN, FAMILY B, 6; MAGEB6 Gene map locus Xp22 (link from Ensembl BioMart) ENSP00000314405 jaccard_194
300468: OMIM gene: MELANOMA ANTIGEN, FAMILY E, 1; MAGEE1 Gene map locus Xq27 (link from Ensembl BioMart) ENSP00000354660 ORTHOMCL496 jaccard_194
300469: OMIM gene: MELANOMA ANTIGEN, FAMILY C, 3; MAGEC3 Gene map locus Xq27 (link from Ensembl BioMart) ENSP00000329145 ORTHOMCL496 jaccard_194
ENSP00000298296 ORTHOMCL496 jaccard_194
300470: OMIM gene: MELANOMA ANTIGEN, FAMILY D, 2; MAGED2 Gene map locus Xp11.2 (link from Ensembl BioMart) ENSP00000218439 ORTHOMCL9405 jaccard_194
300472: OMIM phenotype: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA Gene map locus Xq13.1-q13.3 (link from NCBI) ENSP00000348784 ORTHOMCL3406 jaccard_3014
ENSP00000337270 ORTHOMCL3406 jaccard_3014
300473: OMIM gene: NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1 Gene map locus Xp21.3-p21.2 (link from Ensembl BioMart) ENSP00000302390 ORTHOMCL18852
300474: OMIM gene: GLYCEROL KINASE; GK Gene map locus Xp21.3-p21.2 (link from Ensembl BioMart) ENSP00000354642 ORTHOMCL815 jaccard_465
300475: OMIM phenotype: CONTIGUOUS ABCD1/DXS1375E DELETION SYNDROME (link from Ensembl BioMart) ENSP00000343458 ORTHOMCL6479 jaccard_2820
ENSP00000218104 ORTHOMCL1058 jaccard_534
300477: OMIM gene: FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER A; FAM9A Gene map locus Xp22.33-p22.32 (link from Ensembl BioMart) ENSP00000333748 ORTHOMCL8587
300478: OMIM gene: FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER B; FAM9B Gene map locus Xp22.32 (link from Ensembl BioMart) ENSP00000354770 ORTHOMCL8587 jaccard_274
ENSP00000318716 ORTHOMCL8587 jaccard_274
300479: OMIM gene: FAMILY WITH SEQUENCE SIMILARITY 9, MEMBER C; FAM9C Gene map locus Xp22.31 (link from Ensembl BioMart) ENSP00000334430 ORTHOMCL8587 jaccard_274
300480: OMIM gene: TAK1-BINDING PROTEIN 3 (link from Ensembl BioMart) ENSP00000288422 ORTHOMCL1534 jaccard_1210
300481: OMIM gene: CYTOCHROME b(-245), BETA SUBUNIT; CYBB Gene map locus Xp21.1 (link from Ensembl BioMart) ENSP00000297870 ORTHOMCL266 jaccard_448
300482: OMIM gene: GRB2-ASSOCIATED BINDING PROTEIN 3; GAB3 (link from Ensembl BioMart) ENSP00000291575 ORTHOMCL14457 jaccard_1977
300483: OMIM gene: FAMILY WITH SEQUENCE SIMILARITY 11, MEMBER A; FAM11A (link from Ensembl BioMart) ENSP00000286456 ORTHOMCL7317 jaccard_2524
300485: OMIM gene: BCL6 COREPRESSOR; BCOR Gene map locus Xp11.4 (link from Ensembl BioMart) ENSP00000354820 ORTHOMCL5894 jaccard_6292
300486: OMIM phenotype: MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE Gene map locus Xq12 (link from NCBI) ENSP00000347710 ORTHOMCL64 jaccard_35
ENSP00000320224 ORTHOMCL11384 jaccard_199
300487: OMIM gene: ACTIN-RELATED PROTEIN T1 (link from Ensembl BioMart) ENSP00000242807 jaccard_76
300490: OMIM gene: SH2 DOMAIN PROTEIN 1A; SH2D1A Gene map locus Xq25 (link from Ensembl BioMart) ENSP00000331181 ORTHOMCL14508 jaccard_2730
300491: OMIM phenotype: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS Gene map locus Xp11.4-p11.2 (link from NCBI) ENSP00000295987 ORTHOMCL699 jaccard_1109
ENSP00000263237 ORTHOMCL699 jaccard_8100
ENSP00000343206 ORTHOMCL699 jaccard_8100
300492: OMIM gene: FAMILY WITH SEQUENCE SIMILARITY 3, MEMBER A; FAM3A (link from Ensembl BioMart) ENSP00000352955 ORTHOMCL10828 jaccard_1581
ENSP00000320521 ORTHOMCL10828 jaccard_1581
300494: OMIM phenotype: ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 Gene map locus Xq13 (link from NCBI) ENSP00000351591 ORTHOMCL196 jaccard_69
ENSP00000350612 ORTHOMCL196 jaccard_69
300495: OMIM phenotype: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 MENTAL RETARDATION, X-LINKED, INCLUDED Gene map locus Xp22.33 (link from NCBI) ENSP00000320355 ORTHOMCL196 jaccard_69
ENSP00000275857 ORTHOMCL196 jaccard_69
300496: OMIM phenotype: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 Gene map locus Xq28 (link from NCBI) ENSP00000301948 ORTHOMCL12144 jaccard_8147
300497: OMIM phenotype: ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 Gene map locus Xp22.33 (link from NCBI) ENSP00000275857 ORTHOMCL196 jaccard_69
ENSP00000320355 ORTHOMCL196 jaccard_69
300498: OMIM phenotype: MENTAL RETARDATION, X-LINKED 45; MRX45 Gene map locus Xp22.1-p11 (link from NCBI) ENSP00000341151 ORTHOMCL5727 jaccard_1
300499: OMIM gene: FTSJ HOMOLOG 1; FTSJ1 Gene map locus Xp11.23 (link from Ensembl BioMart) ENSP00000326948 ORTHOMCL3049 jaccard_1275
ENSP00000019019 ORTHOMCL3049 jaccard_1275
300500: OMIM gene: ALBINISM, OCULAR, TYPE I; OA1 OCULAR ALBINISM 1 GENE, INCLUDED; OA1 GENE, INCLUDED Gene map locus Xp22.3 (link from Ensembl BioMart) ENSP00000217965 ORTHOMCL14541 jaccard_7607
300501: OMIM phenotype: MENTAL RETARDATION, X-LINKED 44; MRX44 Gene map locus Xp11.23 (link from NCBI) ENSP00000019019 ORTHOMCL3049 jaccard_1275
ENSP00000326948 ORTHOMCL3049 jaccard_1275
300502: OMIM gene: PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1; PDHA1 (link from Ensembl BioMart) ENSP00000254142 ORTHOMCL1589 jaccard_838
ENSP00000348062 ORTHOMCL245 jaccard_1212
300506: OMIM gene: DELTA SLEEP-INDUCING PEPTIDE, IMMUNOREACTOR; DSIPI Gene map locus Xq22.2 (link from Ensembl BioMart) ENSP00000288274 ORTHOMCL15786 jaccard_9042
ENSP00000314655 ORTHOMCL11444 jaccard_2146
300507: OMIM gene: H2B HISTONE FAMILY, MEMBER W, TESTIS-SPECIFIC; H2BFWT (link from Ensembl BioMart) ENSP00000354723 ORTHOMCL13845 jaccard_102
300510: OMIM phenotype: OVARIAN DYSGENESIS 2; ODG2 Gene map locus Xp11.2 (link from NCBI) ENSP00000252677 ORTHOMCL22022 jaccard_11535
300511: OMIM phenotype: PREMATURE OVARIAN FAILURE 2; POF2 Gene map locus Xq22 (link from NCBI) ENSP00000354987 ORTHOMCL1101 jaccard_131
ENSP00000355369 ORTHOMCL1101 jaccard_131
300512: OMIM gene: WD REPEAT-CONTAINING PROTEIN 13; WDR13 Gene map locus Xp11.23 (link from Ensembl BioMart) ENSP00000218056 ORTHOMCL11578 jaccard_12468
300513: OMIM gene: G PROTEIN-COUPLED RECEPTOR 119; GPR119 (link from Ensembl BioMart) ENSP00000276218 ORTHOMCL17048 jaccard_19
300514: OMIM phenotype: FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB Gene map locus Xp22.31 (link from NCBI) ENSP00000345650
ENSP00000326819 ORTHOMCL20943 jaccard_13824
300515: OMIM gene: FANCB GENE; FANCB Gene map locus Xp22.31 (link from Ensembl BioMart) ENSP00000326819 ORTHOMCL20943 jaccard_13824
ENSP00000345650
300516: OMIM gene: ATPase, CLASS VI, TYPE 11C; ATP11C (link from Ensembl BioMart) ENSP00000355165 ORTHOMCL2089 jaccard_30
ENSP00000332756 ORTHOMCL2089 jaccard_30
300517: OMIM gene: SPINDLIN FAMILY, MEMBER 2; SPIN2 (link from Ensembl BioMart) ENSP00000275988 ORTHOMCL24589 jaccard_109
300520: OMIM gene: CLAUDIN 2; CLDN2 (link from Ensembl BioMart) ENSP00000298115 ORTHOMCL13903 jaccard_113
ENSP00000336571 ORTHOMCL13903 jaccard_113