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[Listings of 'Disease Genes']



RESULT: 308 "disease genes" are found on chromosome X

   The genes listed here cause, predispose or protect from diseases
   (according to OMIM, SWISS-PROT, Genatlas, GeneTests, GAD, GDPInfo, bioalma, Leiden, Atlas, BCGD, TGDB and/or HGMD ).

  

GeneCard Gene Name Locus Disorders ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7  Xq13.1-q13.3 Anemia, sideroblastic, with ataxia [MIM:301310] ABCD1 ATP-binding cassette, sub-family D (ALD), member 1  Xq28 Adrenoleukodystrophy [MIM:300100] Adrenomyeloneuropathy [MIM:300100] ADFN albinism-deafness syndrome  Xq26.3-q27.1 Albinism-deafness syndrome AGMX2 agammaglobulinemia, X-linked 2 (with growth hormone deficiency)  Xp22 Agammaglobulinemia, type 2, X-linked AGTR2 angiotensin II receptor, type 2  Xq22-q23 Mental retardation, X-linked-88 AIC Aicardi syndrome  Xp22 Aicardi syndrome AIED Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)  Xp11.23 Night blindness, congenital stationary, X-linked, type 2A [MIM:300071] Cone-rod dystrophy, X-linked, 3 [MIM:300476] Aland Island eye disease [MIM:300600] AIH3 amelogenesis imperfecta 3, hypomaturation or hypoplastic type  Xq22-q28 Amelogenesis imperfecta-3, hypoplastic type ALAS2 aminolevulinate, delta-, synthase 2  Xp11.21 Anemia, sideroblastic/hypochromic AMCX1 Arthrogryposis multiplex congenita, X-linked (spinal muscular atrophy, infantile, X-linked)  Xp11.23 Spinal muscular atrophy, X-linked 2, infantile [MIM:301830] AMELX amelogenin (amelogenesis imperfecta 1, X-linked)  Xp22.3-p22.1 Amelogenesis imperfecta, hypoplastic/hypomaturation type [MIM:301200] AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region, gene 1  Xq22.3 Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis [MIM:300194] ANOP1 anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities)  Xq27-q28 Microphthalmia, syndromic 4 AP1S2 adaptor-related protein complex 1, sigma 2 subunit  Xp22 Mental retardation, X-linked 59 [MIM:300630] ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6  Xq26 Mental retardation, X-linked nonspecific, type 46 [MIM:300436] ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9  Xq22.1 Hyperekplexia and epilepsy [MIM:300607] ARSE arylsulfatase E (chondrodysplasia punctata 1)  Xp22.3 Chondrodysplasia punctata, X-linked recessive [MIM:302950] ARX aristaless related homeobox  Xp22.13 Infantile spasm syndrome [MIM:308350] Myoclonic epilepsy with mental retardation and spasticity [MIM:300432] Lissencephaly, X-linked with ambiguous genitalia [MIM:300215] Mental retardation, X-linked 36/43/54 [MIM:300419] Proud syndrome [MIM:300004] Partington syndrome [MIM:309510] Otahara syndrome [MIM:308350] AR androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)  Xq11-q12 Androgen insensitivity [MIM:300068] Spinal and bulbar muscular atrophy of Kennedy [MIM:313200] Prostate cancer Breast cancer, male, with Reifenstein syndrome {Prostate cancer, susceptibility to} [MIM:176807] Hypospadias, perineal [MIM:300633] ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2  Xp11.4 Mental retardation, X-linked, with epilepsy [MIM:300423] ATP7A ATPase, Cu++ transporting, alpha polypeptide  Xq12-q13 Menkes disease [MIM:309400] Occipital horn syndrome [MIM:304150] Cutis laxa, neonatal ATRX alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)  Xq13 Alpha-thalassemia/mental retardation syndrome [MIM:301040] Alpha-thalassemia myelodysplasia syndrome, somatic [MIM:300448] Mental retardation-hypotonic facies syndrome, X-linked [MIM:309580] AUNX1 auditory neuropathy, X-linked recessive 1  Xq23-q27.3 Deafness, X-linked 5 AVPR2 arginine vasopressin receptor 2 (nephrogenic diabetes insipidus)  Xq28 Diabetes insipidus, nephrogenic [MIM:304800] Nephrogenic syndrome of inappropriate antidiuresis [MIM:300539] BCOR BCL6 co-repressor  Xp11.4 Microphthalmia, syndromic 2 [MIM:300166] BFLS Borjeson-Forssman-Lehmann syndrome  Xq26.3 Mental retardation, X-linked, with isolated growth hormone deficiency [MIM:300123] Panhypopituitarism, X-linked [MIM:312000] BMND4 Bone mineral density variation QTL 4  Xq27 [Bone mineral density QTL 4] BMP15 bone morphogenetic protein 15  Xp11.2 Ovarian dysgenesis 2 [MIM:300510] Premature ovarian failure 4 [MIM:300510] BPP Polymicrogyria, bilateral perisylvian  Xq28 Polymicrogyria, bilateral perisylvian BRESEK BRESHECK syndrome  X BRESHECK syndrome BRWD3 bromodomain and WD repeat domain containing 3  Xq13 Mental retardation, X-linked 93 [MIM:300659] BTK Bruton agammaglobulinemia tyrosine kinase  Xq21.3-q22 Agammaglobulinemia, type 1, X-linked XLA and isolated growth hormone deficiency [MIM:307200] BZX Bazex syndrome  Xq24-q27 Bazex syndrome C1GALT1C1 C1GALT1-specific chaperone 1  Xq23 Tn syndrome [MIM:300622] CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit  Xp11.23 Night blindness, congenital stationary, X-linked, type 2A [MIM:300071] Cone-rod dystrophy, X-linked, 3 [MIM:300476] Aland Island eye disease [MIM:300600] CCT cataract, congenital, total  Xp Cataract, congenital total CD40LG CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome)  Xq26 Immunodeficiency, X-linked, with hyper-IgM [MIM:308230] CDKL5 cyclin-dependent kinase-like 5  Xp22 Rett syndrome, atypical [MIM:312750] Infantile spasm syndrome, X-linked [MIM:308350] CGF1 cognitive function 1, social  Xq [Social cognition] CHDS3 Coronary heart disease, susceptibility to, 3  Xq23-q26 {Coronary heart disease, susceptibility to, 3} CHM choroideremia (Rab escort protein 1)  Xq21.2 Choroideremia [MIM:303100] CLCN5 chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease)  Xp11.22 Dent disease [MIM:300009] Nephrolithiasis, type I [MIM:310468] Hypophosphatemic rickets [MIM:300554] Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis [MIM:308990] CMTX2 Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive)  Xp22.2 Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 CMTX3 Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant)  Xq26 Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 CND Corneal dermoids  Xq24-qter Dermoids of cornea COD2 cone dystrophy 2 (X-linked)  Xq27 Cone dystrophy, progressive X-linked, 2 COL4A5 collagen, type IV, alpha 5  Xq22.3 Alport syndrome [MIM:301050] COL4A6 collagen, type IV, alpha 6  Xq22.3 Leiomyomatosis, diffuse, with Alport syndrome [MIM:308940] CPX cleft palate and/or ankyloglossia  Xq12-q21 Cleft palate with ankyloglossia [MIM:303400] CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)  Xp22.32 Leukemia, acute myeloid, M2 type CUL4B cullin 4B  Xq23 Mental retardation syndrome, X-linked, Cabezas type [MIM:300354] Mental retardation-hypotonic facies syndrome, X-linked, 2 [MIM:300639] CVD1 cardiac valvular dysplasia-1  Xq28 Cardiac valvular dysplasia-1 CVMRF cubitus valgus with mental retardation and unusual facies  X Cubitus valgus with mental retardation and unusual facies CYBB cytochrome b-245, beta polypeptide  Xp21.1 Chronic granulomatous disease, X-linked [MIM:306400] DCX doublecortex; lissencephaly, X-linked (doublecortin)  Xq22.3-q23 Lissencephaly, X-linked [MIM:300067] Subcortical laminal heteropia, X-linked [MIM:300067] DDB1 damage-specific DNA binding protein 1, 127kDa  11q12-q13 Xeroderma pigmentosum, group E, subtype 2 DDB2 damage-specific DNA binding protein 2, 48kDa  11p12-p11 Xeroderma pigmentosum, group E, DDB-negative subtype [MIM:278740] DFN2 deafness, X-linked 2, perceptive, congenital  Xq22 Deafness, X-linked 1 DFN4 deafness, X-linked 4, congenital sensorineural  Xp21.2 Deafness, X-linked 3 DFN6 deafness, X-linked 6, sensorineural  Xp22 Deafness, X-linked 4 DHOF dermal hypoplasia, focal  Xp11.23 Focal dermal hypoplasia [MIM:305600] DIAPH2 diaphanous homolog 2 (Drosophila)  Xq22 Premature ovarian failure [MIM:300511] DKC1 dyskeratosis congenita 1, dyskerin  Xq28 Dyskeratosis congenita-1 [MIM:305000] Hoyeraal-Hreidarsson syndrome [MIM:300240] DLG3 discs, large homolog 3 (neuroendocrine-dlg, Drosophila)  Xq13.1 Mental retardation, X-linked-90 DMD dystrophin (muscular dystrophy, Duchenne and Becker types)  Xp21.2 Duchenne muscular dystrophy [MIM:310200] Becker muscular dystrophy [MIM:300376] Cardiomyopathy, dilated, 3B [MIM:302045] DMRT1 doublesex and mab-3 related transcription factor 1  9p24.3 XY sex reversal DYT3 dystonia 3 (with Parkinsonism)  Xq13 Dystonia-Parkinsonism, X-linked [MIM:314250] DYX9 dyslexia susceptibility 9  Xq27.3 {Dyslexia, susceptibility to, 9} EBP emopamil binding protein (sterol isomerase)  Xp11.23-p11.22 Chondrodysplasia punctata, X-linked dominant [MIM:302960] EDA ectodysplasin A  Xq12-q13.1 Ectodermal dysplasia-1, anhidrotic [MIM:305100] Hypodontia, X-linked [MIM:300606] EFMR epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)  Xq22 Epilepsy, female restricted, with mental retardation EFNB1 ephrin-B1  Xq12 Craniofrontonasal dysplasia [MIM:304110] ELK1 ELK1, member of ETS oncogene family  Xp11.2 mutations EMD emerin  Xq28 Emery-Dreifuss muscular dystrophy [MIM:310300] EMWX episodic muscle weakness, X-linked  Xp22.3 Episodic muscle weakness, X-linked ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)  19q13.2-q13.3 Xeroderma pigmentosum, group D [MIM:278730] Trichothiodystrophy [MIM:601675] Cerebrooculofacioskeletal syndrome 2 [MIM:610756] ERCC3 excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)  2q21 Xeroderma pigmentosum, group B [MIM:610651] Trichothiodystrophy [MIM:601675] ERCC4 excision repair cross-complementing rodent repair deficiency, complementation group 4  16p13.3-p13.13 Xeroderma pigmentosum, group F [MIM:278760] XFE progeroid syndrome [MIM:610965] ERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))  13q33 Xeroderma pigmentosum, group G [MIM:278780] Cerebrooculofacioskeletal syndrome 3 F8 coagulation factor VIII, procoagulant component  Xq28 Hemophilia A F9 coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)  Xq27.1-q27.2 Hemophilia B Warfarin sensitivity FAM58A family with sequence similarity 58, member A  Xq28 STAR syndrome [MIM:300707] FANCB Fanconi anemia, complementation group B  Xp22.31 Fanconi anemia, complementation group B [MIM:300514] VACTERL association with hydrocephalus, X-linked [MIM:314390] FCP1 F-cell production 1  Xp22.2 Fetal hemoglobin quantitative trait locus 3 FGD1 FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia)  Xp11.21 Aarskog-Scott syndrome [MIM:305400] Mental retardation, X-linked nonsyndromic FGS1 FG syndrome 1  Xq12-q21.31 FG syndrome 1 FGS2 FG syndrome 2  Xq28 FG syndrome 2 FGS3 FG syndrome 3  Xp22.3 FG syndrome 3 FGS4 FG syndrome 4  Xp11.4-p11.3 FG syndrome 4 FGS5 FG syndrome 5  Xq22.3 FG syndrome 5 FLNA filamin A, alpha (actin binding protein 280)  Xq28 Heterotopia, periventricular [MIM:300049] Otopalatodigital syndrome, type I [MIM:311300] Otopalatodigital syndrome, type II [MIM:304120] Frontometaphyseal dysplasia [MIM:304120] Melnick-Needles syndrome [MIM:309350] Heterotopia, periventricular nodular, with frontometaphyseal dysplasia [MIM:300049] Heterotopia, periventricular, ED variant [MIM:300537] FMR1 fragile X mental retardation 1  Xq27.3 Fragile X syndrome [MIM:300624] Fragile X tremor/ataxia syndrome [MIM:300623] FOXP3 forkhead box P3  Xp11.23-q13.3 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked [MIM:304790] {Diabetes mellitus, type I, susceptibility to} [MIM:222100] FRAXA fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)  Xq27.3 Fragile X syndrome [MIM:300624] Fragile X tremor/ataxia syndrome [MIM:300623] FRAXE fragile site, folic acid type, rare, fra(X)(q28) E  Xq28 Mental retardation, X-linked, FRAXE type FRMD7 FERM domain containing 7  Xq26.2 Nystagmus 1, congenital, X-linked [MIM:310700] FTSJ1 FtsJ homolog 1 (E. coli)  Xp11.23 Mental retardation, X-linked-9 [MIM:309549] FTX Thrombocytosis, familial X-linked  X Thrombocytosis, familial X-linked G6PD glucose-6-phosphate dehydrogenase  Xq28 G6PD deficiency Favism Hemolytic anemia due to G6PD deficiency GATA1 GATA binding protein 1 (globin transcription factor 1)  Xp11.23 Dyserythropoietic anemia with thrombocytopenia [MIM:300367] Macrothrombocytopenia [MIM:300367] Leukemia, megakaryoblastic, with or without Down syndrome [MIM:190685] Leukemia, megakaryoblastic, of Down syndrome [MIM:190685] GDI1 GDP dissociation inhibitor 1  Xq28 Mental retardation, X-linked nonspecific [MIM:309541] GDXY gonadal dysgenesis, XY female type  Xp22.11-p21.2 Gonadal dysgenesis, XY female type GJB1 gap junction protein, beta 1, 32kDa  Xq13.1 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 [MIM:302800] GK glycerol kinase  Xp21.3-p21.2 Glycerol kinase deficiency [MIM:307030] GLA galactosidase, alpha  Xq22 Fabry disease [MIM:301500] Fabry disease, cardiac variant [MIM:301500] GPC3 glypican 3  Xq26 Simpson-Golabi-Behmel syndrome, type 1 [MIM:312870] Wilms tumor, somatic [MIM:194070] GPR143 G protein-coupled receptor 143  Xp22.3 Ocular albinism, Nettleship-Falls type GRDX Graves disease, susceptibility to, X-linked  Xp11 {Graves disease, susceptibility to, X-linked} [MIM:275000] GRIA3 glutamate receptor, ionotrophic, AMPA 3  Xq25-q26 Mental retardation, X-linked 94 [MIM:300699] GRPR gastrin-releasing peptide receptor  Xp22.3-p21.2 mutations GUST Gustavson mental retardation syndrome (with microcephaly, optic  Xq26 Gustavson syndrome HCCS holocytochrome c synthase (cytochrome c heme-lyase)  Xp22 Microphthalmia, syndromic 7 [MIM:309801] HDPA Hodgkin disease, susceptibility, pseudoautosomal  Xpter-p22.32 {Hodgkin disease susceptibility, pseudoautosomal} HPRT1 hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)  Xq26-q27.2 Lesch-Nyhan syndrome, 300322 HPRT-related gout [MIM:300323] HPT hypoparathyroidism  Xq26-q27 Hypoparathyroidism, X-linked HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10  Xp11.2 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency [MIM:300438] Mental retardation, X-linked syndromic 10 [MIM:300220] Mental retardation, X-linked 17/31, microduplication [MIM:300705] HTC2 hypertrichosis 2 (generalized, congenital)  Xq24-q27.1 Hypertrichosis, congenital generalized HTR2C 5-hydroxytryptamine (serotonin) receptor 2C  Xq24 mutations HUWE1 HECT, UBA and WWE domain containing 1  Xp11.2 Mental retardation, X-linked syndromic, Turner type [MIM:300706] IDDMX Diabetes mellitus, insulin-dependent, X-linked, susceptibility to  Xp11 {Diabetes mellitus, insulin-dependent, X-linked} IDS iduronate 2-sulfatase (Hunter syndrome)  Xq28 Mucopolysaccharidosis II IGBP1 immunoglobulin (CD79A) binding protein 1  Xq13.1-q13.3 Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia [MIM:300472] IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma  Xq28 Incontinentia pigmenti, type II [MIM:308300] Ectodermal dysplasia, hypohidrotic, with immune deficiency [MIM:300291] Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency [MIM:300301] Immunodeficiency, isolated [MIM:300584] {Atypical mycobacteriosis, familial} [MIM:300636] Invasive pneumococcal disease, recurrent isolated, 2 [MIM:300248] IL1RAPL1 interleukin 1 receptor accessory protein-like 1  Xp22.1-p21.3 Mental retardation, X-linked, 21/34 [MIM:300143] IL2RG interleukin 2 receptor, gamma (severe combined immunodeficiency)  Xq13 Severe combined immunodeficiency, X-linked [MIM:300400] Combined immunodeficiency, X-linked, moderate [MIM:312863] IMAGE Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies  X IMAGE syndrome INDX Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury  Xq26-qter Wood neuroimmunologic syndrome IPOX Intestinal pseudoobstruction, neuronal, primary idiopathic  Xq28 Intestinal pseudoobstruction, neuronal, X-linked IV inversus situs, viscerum  Xq22.3 Leiomyomatosis, diffuse, with Alport syndrome [MIM:308940] JARID1C jumonji, AT rich interactive domain 1C  Xp11.22-p11.21 Mental retardation, X-linked, syndromic, JARID1C-related [MIM:300534] KAL1 Kallmann syndrome 1 sequence  Xp22.3 Kallmann syndrome KFSD keratosis follicularis spinulosa decalvans  Xp22.1 Keratosis follicularis spinulosa decalvans [MIM:308800] KMS Kabuki mental retardation syndrome  Xp22.3 Kallmann syndrome L1CAM L1 cell adhesion molecule  Xq28 Hydrocephalus due to aqueductal stenosis [MIM:307000] MASA syndrome [MIM:303350] CRASH syndrome [MIM:303350] Hydrocephalus with Hirschsprung disease and cleft palate [MIM:142623] Hydrocephalus with congenital idiopathic intestinal pseudoobstruction [MIM:307000] Corpus callosum, partial agenesis of [MIM:304100] LAMP2 lysosomal-associated membrane protein 2  Xq24 Glycogen storage disease IIb [MIM:300257] MAA microphthalmia or anophthalmia and associated anomalies  Xq27-q28 Microphthalmia, syndromic 1 MAFD2 major affective disorder 2  Xq28 {?Major affective disorder 2} MAGT1 magnesium transporter 1  Xq13.1-q13.2 Mental retardation, X-linked 95 [MIM:300716] MAMLD1 mastermind-like domain containing 1  Xq28 Hypospadias, X-linked [MIM:300633] MAOA monoamine oxidase A  Xp11.23 Brunner syndrome MAOB monoamine oxidase B  Xp11.23 monoamine oxidase deficiency MCS Miles-Carpenter X-linked mental retardation syndrome  Xq13-q22 Mental retardation, X-linked, syndromic-4, with congenital contractures and low fingertip arches MEAX myopathy with excessive autophagy  Xq28 Myopathy, X-linked, with excessive autophagy MECP2 methyl CpG binding protein 2 (Rett syndrome)  Xq28 Rett syndrome [MIM:312750] Mental retardation, X-linked, syndromic 13 [MIM:300055] Rett syndrome, preserved speech variant [MIM:312750] Encephalopathy, neonatal severe [MIM:300673] {Autism, susceptibility to, X-linked-3} [MIM:300496] Angelman syndrome [MIM:105830] Mental retardation, X-linked, Lubs type, 300260 (3) X MED12 mediator complex subunit 12  Xq13 MED12-Related Disorders MEHMO mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome  Xp22.13-p21.1 MEHMO syndrome MENOQ1 menopause, natural, age at, QTL  Xp21.3 {Menopause, natural, age at, QTL} MGC1 megalocornea 1 (X-linked)  Xq21.3-q22 Megalocornea, X-linked MGR2 Migraine, familial typical, susceptibility to  Xq {Migraine, familial typical, susceptibility to, 1} MID1 midline 1 (Opitz/BBB syndrome)  Xp22 Opitz G syndrome, type I [MIM:300000] MNG2 multinodular goiter 2  Xp22 Goiter, multinodular, 2 MPDMRS Martin-Probst deafness-mental retardation syndrome  Xq11-q21 Martin-Probst deafness-mental retardation syndrome MRSA Mental retardation, X-linked, South African type  Xq24-q27.3 Mental retardation, X-linked, South African type MRSD mental retardation-skeletal dysplasia  Xq28 Mental retardation-skeletal dysplasia MRSS Mental retardation, X-linked, with short stature  Xq24 Mental retardation, X-linked, with short stature MRX14 mental retardation, X-linked 14  Xp11.3-q13.3 Mental retardation, X-linked 14 MRX17 mental retardation, X-linked 17  Xp11.2 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency [MIM:300438] Mental retardation, X-linked syndromic 10 [MIM:300220] Mental retardation, X-linked 17/31, microduplication [MIM:300705] MRX1 mental retardation, X-linked 1 (non-dysmorphic)  Xp11.3-q21.1 Mental retardation, X-linked, 1 MRX20 mental retardation, X-linked 20  Xp11-q21 Mental retardation, X-linked 20 MRX23 mental retardation, X-linked 23  Xq23-q24 Mental retardation, X-linked 23, nonspecific MRX27 mental retardation, X-linked 27  Xq23-q24 Mental retardation, X-linked 23, nonspecific MRX2 mental retardation, X-linked 2 (non-dysmorphic)  Xp22.3 Mental retardation, X-linked, 2 MRX31 mental retardation, X-linked 31  Xp11.2 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency [MIM:300438] Mental retardation, X-linked syndromic 10 [MIM:300220] Mental retardation, X-linked 17/31, microduplication [MIM:300705] MRX35 mental retardation, X-linked 35  Xq23-q24 Mental retardation, X-linked 23, nonspecific MRX42 mental retardation, X-linked 42  Xq26 Mental retardation, X-linked nonspecific, 42 MRX49 mental retardation, X-linked 49  Xp22.3 Mental retardation, X-linked-49 MRX50 mental retardation, X-linked 50  Xp11.3-p11.21 Mental retardation, X-linked nonspecific, type 50 MRX52 mental retardation, X-linked 52  Xp11.21-q22.3 Mental retardation, X-linked 52 MRX53 mental retardation, X-linked 53  Xq22.2-q26 Mental retardation, X-linked-53 MRX72 mental retardation, X-linked 72  Xq28 Mental retardation, X-linked-72 MRX77 mental retardation, X-linked 77  Xq12-q21.3 Mental retardation, X-linked 77 MRX78 mental retardation, X-linked 78  Xp11.4-p11.23 Mental retardation, X-linked 78 MRX80 mental retardation, X-linked 80  Xq23-q24 Mental retardation, X-linked 23, nonspecific MRX81 mental retardation, X-linked 81  Xp11.2-q12 Mental retardation, X-linked 81 MRX82 mental retardation, X-linked 82  Xq24-q25 Mental retardation, X-linked 82 MRX84 mental retardation, X-linked 84  Xp11.3-q22.3 Mental retardation, X-linked 84 MRXS10 mental retardation, X-linked, syndromic 10  Xp11.2 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency [MIM:300438] Mental retardation, X-linked syndromic 10 [MIM:300220] Mental retardation, X-linked 17/31, microduplication [MIM:300705] MRXS11 mental retardation, X-linked, syndromic 11  Xq26-q27 Mental retardation, X-linked, Shashi type MRXS12 Mental retardation, X-linked, syndromic 12  Xp11 Mental retardation, X-linked, syndromic 12 MRXS5 mental retardation, X-linked, syndromic 5  Xq25-q27 Mental retardation, X-linked, syndromic-5, with Dandy-Walker malformation, basal ganglia disease, and seizures MRXS7 mental retardation, X-linked, syndromic 7  Xp11.3-q22 Mental retardation, X-linked, syndromic 7 MRXSAB Abidi X-linked mental retardation syndrome  Xq13.2 Mental retardation syndrome, X-linked, Abidi type MRXSA Armfield X-linked mental retardation syndrome  Xq28 Mental retardation syndrome, X-linked, Armfield type MRXSL Lubs X-linked mental retardation syndrome  Xq28 Mental retardation syndrome, X-linked, Lubs type MTCP1 mature T-cell proliferation 1  Xq28 prolymphocytic leukemia (T-PLL),with translocation t(X;14)(q28;q11) and breakpoint at MTCP1 locus MTM1 myotubularin 1  Xq28 Myotubular myopathy, X-linked [MIM:310400] MYP1 myopia 1 (X-linked, Bornholm eye disease included)  Xq28 Myopia-1 Bornholm eye disease NAMSD neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)  Xq24-q26.1 Cowchock syndrome NDP Norrie disease (pseudoglioma)  Xp11.4 Norrie disease Exudative vitreoretinopathy, X-linked [MIM:305390] NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa  Xq24 Mitochondrial complex I deficiency [MIM:252010] NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)  Xp22.13 Nance-Horan syndrome [MIM:302350] NLGN3 neuroligin 3  Xq13 {Autism, susceptibility to, X-linked-1} [MIM:300425] {Asperger syndrome, susceptibility to, X-linked-1} [MIM:300494] NPHL1 nephrolithiasis 1 (X-linked)  Xp11.22 Dent disease [MIM:300009] Nephrolithiasis, type I [MIM:310468] Hypophosphatemic rickets [MIM:300554] Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis [MIM:308990] NR0B1 nuclear receptor subfamily 0, group B, member 1  ? X-Linked Adrenal Hypoplasia Congenita NSDHL NAD(P) dependent steroid dehydrogenase-like  Xq28 CHILD syndrome [MIM:308050] NYS5 Nystagmus 5, infantile periodic alternating  X Nystagmus 5, infantile periodic alternating NYX nyctalopin  Xp11.4 Night blindness, congenital stationary, type 1 [MIM:310500] OA1 Osteoarthritis QTL 1  Xp22.3 Ocular albinism with sensorineural deafness OA2 Osteoarthritis QTL 2  Xp11.23 Night blindness, congenital stationary, X-linked, type 2A [MIM:300071] Cone-rod dystrophy, X-linked, 3 [MIM:300476] Aland Island eye disease [MIM:300600] OASD ocular albinism and sensorineural deafness  Xp22.3 Ocular albinism with sensorineural deafness OCRL oculocerebrorenal syndrome of Lowe  Xq26.1 Lowe syndrome [MIM:309000] Dent syndrome [MIM:300009] ODPF Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula  Xq27.3-q28 Osseous dysplasia, digital, with facial pigmentary defects and multiple frenula OFD1 oral-facial-digital syndrome 1  Xp22.3-p22.2 Oral-facial-digital syndrome 1 [MIM:311200] Simpson-Golabi-Behmel syndrome, type 2 [MIM:300209] OPA2 optic atrophy 2 (obscure)  Xp11.4-p11.21 Optic atrophy, X-linked OPHN1 oligophrenin 1  Xq12 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance [MIM:300486] OPN1LW opsin 1 (cone pigments), long-wave-sensitive  Xq28 Colorblindness, protan Blue-cone monochromacy [MIM:303700] OPN1MW opsin 1 (cone pigments), medium-wave-sensitive  Xq28 Colorblindness, deutan Blue-cone monochromacy [MIM:303700] OSCS Osteopathia striata with cranial sclerosis  X Osteopathia striata with cranial sclerosis OTC ornithine carbamoyltransferase  Xp21.1 Ornithine transcarbamylase deficiency [MIM:311250] PAK3 p21 protein (Cdc42/Rac)-activated kinase 3  Xq21.3-q24 Mental retardation, X-linked 30 [MIM:300558] PARK12 Parkinson disease 12  Xq21-q25 Parkinson disease 12 [MIM:168600] PARP1 poly (ADP-ribose) polymerase 1  1q42 Xeroderma pigmentosum PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1  Xp22.2-p22.1 Pyruvate dehydrogenase deficiency [MIM:312170] Leigh syndrome, X-linked [MIM:308930] PDR pigment disorder, reticulate  Xp22-p21 Pigment disorder, reticulate PGK1P1 phosphoglycerate kinase 1, pseudogene 1  Xq13 Phosphoglycerate kinase 1 deficiency [MIM:300653] PGK1P2 phosphoglycerate kinase 1, pseudogene 2  Xq13 Phosphoglycerate kinase 1 deficiency [MIM:300653] PGK1 phosphoglycerate kinase 1  Xq13 Phosphoglycerate kinase 1 deficiency [MIM:300653] PHEX phosphate regulating endopeptidase homolog, X-linked  Xp22.2-p22.1 Hypophosphatemia, X-linked [MIM:307800] PHF6 PHD finger protein 6  Xq26.3 Borjeson-Forssman-Lehmann syndrome [MIM:301900] PHF8 PHD finger protein 8  Xp11.2 Mental retardation syndrome, X-linked, Siderius type [MIM:300263] PHKA1 phosphorylase kinase, alpha 1 (muscle)  Xq13 Muscle glycogenosis [MIM:300559] PHKA2 phosphorylase kinase, alpha 2 (liver)  Xp22.2-p22.1 Glycogenosis, X-linked hepatic, type I Glycogenosis, X-linked hepatic, type II PHP panhypopituitarism  Xq27.2-q27.3 Panhypopituitarism, X-linked PIGA phosphatidylinositol glycan anchor biosynthesis, class A  Xp22.1 Paroxysmal nocturnal hemoglobinuria PLP1 proteolipid protein 1  Xq22 Pelizaeus-Merzbacher disease [MIM:312080] Spastic paraplegia-2 [MIM:312920] POF1 premature ovarian failure 1  Xq26-q28 Ovarian failure, premature POLH polymerase (DNA directed), eta  6p21.1-p12 Xeroderma pigmentosum, variant type [MIM:278750] PORCN porcupine homolog (Drosophila)  Xp11.23 Focal dermal hypoplasia [MIM:305600] POU3F4 POU class 3 homeobox 4  Xq21.1 Deafness, X-linked 2 [MIM:304400] PQBP1 polyglutamine binding protein 1  Xp11.23 Renpenning syndrome [MIM:309500] Golabi-Ito-Hall syndrome PRPS1 phosphoribosyl pyrophosphate synthetase 1  Xq22-q24 Gout, PRPS-related [MIM:300661] Phosphoribosylpyrophosphate synthetase superactivity [MIM:300661] Charcot-Marie-Tooth disease, X-linked recessive, 5 [MIM:311070] Arts syndrome [MIM:301835] PRS Prieto X-linked mental retardation syndrome  Xp11-q21 Mental retardation, X-linked, syndromic-2, with dysmorphism and cerebral atrophy PTOS2 Ptosis, hereditary congenital 2  Xq24-q27.1 Ptosis, hereditary congenital 2 RFMN Roifman syndrome  X Roifman syndrome RP23 retinitis pigmentosa 23 (X-linked recessive)  Xp22 Retinitis pigmentosa 23 RP24 retinitis pigmentosa 24 (X-linked recessive)  Xq26-q27 Retinitis pigmentosa-24 RP2 retinitis pigmentosa 2 (X-linked recessive)  Xp11.3 Retinitis pigmentosa-2 Xp11.3 deletion syndrome [MIM:300578] RP34 retinitis pigmentosa 34 (X-linked recessive)  Xq28 Retinitis pigmentosa 34 RP6 retinitis pigmentosa 6 (X-linked recessive)  Xp21.3-p21.2 Retinitis pigmentosa-6 RPGR retinitis pigmentosa GTPase regulator  Xp21.1 Retinitis pigmentosa-3 [MIM:300389] Cone-rod dystrophy [MIM:300029] Cone dystrophy-1 [MIM:304020] Retinitis pigmentosa, X-linked, with recurrent respiratory infections [MIM:300455] Macular degeneration, X-linked atrophic Retinitis pigmentosa, X-linked with deafness and sinorespiratory infections [MIM:300455] RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3  Xp22.2-p22.1 Coffin-Lowry syndrome [MIM:303600] Mental retardation, X-linked nonspecific, type 19 RRDX Radial ray deficiency  Xq24-q25 Radial ray deficiency RS1 retinoschisin 1  Xp22.2-p22.1 Retinoschisis SAT1 spermidine/spermine N1-acetyltransferase 1  Xp22.1 Keratosis follicularis spinulosa decalvans [MIM:308800] SCAX1 spinocerebellar ataxia, X-linked 1  Xp11.21-q21.3 Spinocerebellar ataxia, X-linked 1 SH2D1A SH2 domain protein 1A  Xq25 Lymphoproliferative syndrome, X-linked [MIM:308240] SHFM2 split hand/foot malformation (ectrodactyly) type 2  Xq26 Split hand/foot malformation, type 2 SHOX short stature homeobox  Xpter-p22.32 Short stature, idiopathic familial [MIM:300582] Leri-Weill dyschondrosteosis [MIM:127300] Langer mesomelic dysplasia [MIM:249700] SHROOM4 shroom family member 4  Xp11.2 Stocco dos Santos X-linked mental retardation syndrome [MIM:300434] SLC16A2 solute carrier family 16, member 2 (monocarboxylic acid transporter 8)  Xq13.2 Allan-Herndon-Dudley syndrome [MIM:300523] SLC6A14 solute carrier family 6 (amino acid transporter), member 14  Xq23-q24 {Obesity, susceptibility to} [MIM:300306] SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8  Xq28 Creatine deficiency syndrome, X-linked [MIM:300352] SLC9A6 solute carrier family 9 (sodium/hydrogen exchanger), member 6  Xq26.3 Mental retardation, X-linked syndromic, Christianson type [MIM:300243] SMAX3 spinal muscular atrophy, distal, X-linked recessive  Xq13.1-q21 Spinal muscular atrophy, distal, X-linked 3 SMS spermine synthase  Xp22.1 Mental retardation, X-linked, Snyder-Robinson type [MIM:309583] SOX3 SRY (sex determining region Y)-box 3  Xq26.3 Mental retardation, X-linked, with isolated growth hormone deficiency [MIM:300123] Panhypopituitarism, X-linked [MIM:312000] SPG16 spastic paraplegia 16 (complicated, X-linked recessive)  Xq11.2 Spastic paraplegia-16, X-linked, complicated SRPX2 sushi-repeat-containing protein, X-linked 2  Xq21.33-q23 Roladic epilepsy, mental retardation, and speech dyspraxia [MIM:300642] SRPX sushi-repeat-containing protein, X-linked  Xp21.1 mutations SSX1 synovial sarcoma, X breakpoint 1  Xp11.2 Sarcoma, synovial SSX2 synovial sarcoma, X breakpoint 2  Xp11.2 Sarcoma, synovial SSX4 synovial sarcoma, X breakpoint 4  Xp11.2 Sarcoma, synovial STQTL6 stature quantitative trait locus 6  Xq24-q25 Stature QTL 6 STS steroid sulfatase (microsomal), isozyme S  Xp22.32 Ichthyosis, X-linked Placental steroid sulfatase deficiency SXI2 X inactivation, familial skewed, 2  Xq25-q26 X inactivation, familial skewed, 2 SYN1 synapsin I  Xp11.4-p11.2 Epilepsy, X-linked, with variable learning disabilities and behavior disorders [MIM:300491] TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa  Xq13 Dystonia-Parkinsonism, X-linked [MIM:314250] TARPS Talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left superior vena cava  Xp11.23-q13.3 TARP syndrome TARP TCR gamma alternate reading frame protein  Xp11.23-q13.3 TARP syndrome TBL1X transducin (beta)-like 1X-linked  Xp22.3 mutations TBX22 T-box 22  Xq12-q21 Cleft palate with ankyloglossia [MIM:303400] TDFA Testis-determining factor, autosomal (ZFY-related autosomal)  9p24 XY sex reversal TFE3 transcription factor binding to IGHM enhancer 3  Xp11.22 Renal cell carcinoma, papillary, 1 [MIM:605074] TGCT1 testicular germ cell tumor susceptibility 1  Xq27 Testicular germ cell tumor THAS thoracoabdominal syndrome  Xq25-q26.1 Thoracoabdominal syndrome TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)  Xq22 Deafness, X-linked 1, progressive Mohr-Tranebjaerg syndrome [MIM:304700] Jensen syndrome [MIM:311150] TIMP1 TIMP metallopeptidase inhibitor 1  Xp11.3-p11.23 mutations TKCR torticollis, keloids, cryptorchidism and renal dysplasia  Xq28 Goeminne TKCR syndrome TKTL1 transketolase-like 1  Xq28 {?Wernicke-Korsakoff syndrome, susceptibility to} TRAPPC2 trafficking protein particle complex 2  Xp22.2-p22.1 Spondyloepiphyseal dysplasia tarda [MIM:313400] TRO trophinin  Xp11.22-p11.21 mutations UBE2A ubiquitin-conjugating enzyme E2A (RAD6 homolog)  Xq24-q25 Mental retardation, X-linked syndromic UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)  Xq25-q26 Mental retardation, X-linked, syndromic 14 [MIM:300676] VSPA Visuospatial/perceptual abilities  Xp22.33 Turner syndrome-associated neurocognitive phenotype [Visuospatial/perceptual abilities] WAS Wiskott-Aldrich syndrome (eczema-thrombocytopenia)  Xp11.23-p11.22 Wiskott-Aldrich syndrome [MIM:301000] Thrombocytopenia, X-linked [MIM:313900] Neutropenia, severe congenital, X-linked [MIM:300299] Thrombocytopenia, X-linked, intermittent [MIM:313900] WSN Waisman syndrome  Xq28 Waisman parkinsonism-mental retardation syndrome WTS Wilson-Turner X-linked mental retardation syndrome  Xp21.1-q22 Mental retardation, X-linked, syndromic-6, with gynecomastia and obesity WWS Wieacker-Wolff syndrome  Xq13-q21 Wieacker-Wolff syndrome XBP1 X-box binding protein 1  22q12 {Bipolar disorder, susceptibility to} [MIM:125480] XCE X chromosome controlling element  Xq13.2 X-inactivation, familial skewed [MIM:300087] XDH xanthine dehydrogenase  2p23-p22 Xanthinuria, type I [MIM:278300] XGPY Xg pseudogene, Y-linked  Xpter-p22.32 [Blood group, XG system] XG Xg blood group  Xpter-p22.32 [Blood group, XG system] XIAP X-linked inhibitor of apoptosis  Xq25 Lymphoproliferative syndrome, X-linked, 2 [MIM:300635] XIC X chromosome inactivation center  Xq13.2 X-inactivation, familial skewed [MIM:300087] XIST X (inactive)-specific transcript (non-protein coding)  Xq13.2 X-inactivation, familial skewed [MIM:300087] XK X-linked Kx blood group (McLeod syndrome)  Xp21.2-p21.1 McLeod syndrome McLeod syndrome with neuroacanthosis XPA xeroderma pigmentosum, complementation group A  9q22.3 Xeroderma pigmentosum, group A [MIM:278700] XPC xeroderma pigmentosum, complementation group C  3p25 Xeroderma pigmentosum, group C XPNPEP2 X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound  Xq25 {Angioedema induced by ACE inhibitors, susceptibility to} XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1  19q13.2 mutations XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2  7q36.1 mutations XRCC3 X-ray repair complementing defective repair in Chinese hamster cells 3  14q32.3 {Melanoma, cutaneous malignant, susceptibility to} {Breast cancer, susceptibility to} ZDHHC15 zinc finger, DHHC-type containing 15  Xq13.3 Mental retardation, X-linked-91 [MIM:300577] ZIC3 Zic family member 3 (odd-paired homolog, Drosophila)  Xq26.2 Heterotaxy, X-linked visceral [MIM:306955] ZNF41 zinc finger protein 41  Xp22.1-cen Mental retardation, X-linked-89 ZNF674 zinc finger family member 674  Xp11 Mental retardation, X-linked-92 ZNF81 zinc finger protein 81  Xp22.1-p11 Mental retardation, X-linked 45 [MIM:300498]