x-linked inheritance Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. (Human Phenotype Ontology, HP_0001417)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001417
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Genes

200 genes associated with the x-linked inheritance phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACSL4 acyl-CoA synthetase long-chain family member 4
AFF2 AF4/FMR2 family, member 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ALAS2 5'-aminolevulinate synthase 2
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
AMELX amelogenin, X-linked
AMER1 APC membrane recruitment protein 1
ANOS1 anosmin 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AR androgen receptor
ARAF A-Raf proto-oncogene, serine/threonine kinase
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ARX aristaless related homeobox
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
AVPR2 arginine vasopressin receptor 2
BCAP31 B-cell receptor-associated protein 31
BCOR BCL6 corepressor
BRWD3 bromodomain and WD repeat domain containing 3
BTK Bruton agammaglobulinemia tyrosine kinase
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CD40LG CD40 ligand
CDKL5 cyclin-dependent kinase-like 5
CDR1 cerebellar degeneration-related protein 1, 34kDa
CFP complement factor properdin
CHM choroideremia (Rab escort protein 1)
CHRDL1 chordin-like 1
CLCN5 chloride channel, voltage-sensitive 5
CLIC2 chloride intracellular channel 2
COL4A5 collagen, type IV, alpha 5
COL4A6 collagen, type IV, alpha 6
COX7B cytochrome c oxidase subunit VIIb
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
CUL4B cullin 4B
CYBB cytochrome b-245, beta polypeptide
DCX doublecortin
DKC1 dyskeratosis congenita 1, dyskerin
DLG3 discs, large homolog 3 (Drosophila)
DMD dystrophin
EBP emopamil binding protein (sterol isomerase)
EDA ectodysplasin A
EFNB1 ephrin-B1
ELK1 ELK1, member of ETS oncogene family
EMD emerin
F8 coagulation factor VIII, procoagulant component
F9 coagulation factor IX
FANCB Fanconi anemia, complementation group B
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF16 fibroblast growth factor 16
FHL1 four and a half LIM domains 1
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
FOXO4 forkhead box O4
FOXP3 forkhead box P3
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRMD7 FERM domain containing 7
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDI1 GDP dissociation inhibitor 1
GJB1 gap junction protein, beta 1, 32kDa
GK glycerol kinase
GLA galactosidase, alpha
GPC3 glypican 3
GPR143 G protein-coupled receptor 143
GPR179 G protein-coupled receptor 179
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRPR gastrin-releasing peptide receptor
HCCS holocytochrome c synthase
HCFC1 host cell factor C1
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HMGB3 high mobility group box 3
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IDS iduronate 2-sulfatase
IGBP1 immunoglobulin (CD79A) binding protein 1
IGSF1 immunoglobulin superfamily, member 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IL2RG interleukin 2 receptor, gamma
IQSEC2 IQ motif and Sec7 domain 2
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA2022 KIAA2022
L1CAM L1 cell adhesion molecule
LAMP2 lysosomal-associated membrane protein 2
LMNA lamin A/C
MAGT1 magnesium transporter 1
MAMLD1 mastermind-like domain containing 1
MAOA monoamine oxidase A
MAOB monoamine oxidase B
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCF2 MCF.2 cell line derived transforming sequence
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MID1 midline 1
MITF microphthalmia-associated transcription factor
MTM1 myotubularin 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NDP Norrie disease (pseudoglioma)
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NLGN4X neuroligin 4, X-linked
NR0B1 nuclear receptor subfamily 0, group B, member 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NUBPL nucleotide binding protein-like
NYX nyctalopin
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OTC ornithine carbamoyltransferase
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PCDH19 protocadherin 19
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
PGK1 phosphoglycerate kinase 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF6 PHD finger protein 6
PHKA1 phosphorylase kinase, alpha 1 (muscle)
PHKA2 phosphorylase kinase, alpha 2 (liver)
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PLP1 proteolipid protein 1
PLS3 plastin 3
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
PORCN porcupine homolog (Drosophila)
POU3F4 POU class 3 homeobox 4
PQBP1 polyglutamine binding protein 1
PRPS1 phosphoribosyl pyrophosphate synthetase 1
RAB39B RAB39B, member RAS oncogene family
RAB40AL RAB40A, member RAS oncogene family-like
RBM10 RNA binding motif protein 10
RENBP renin binding protein
RPGR retinitis pigmentosa GTPase regulator
RPS4X ribosomal protein S4, X-linked
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RS1 retinoschisin 1
S100G S100 calcium binding protein G
SAT1 spermidine/spermine N1-acetyltransferase 1
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
SH2D1A SH2 domain containing 1A
SHOX short stature homeobox
SLC10A3 solute carrier family 10, member 3
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMC1A structural maintenance of chromosomes 1A
SMPX small muscle protein, X-linked
SMS spermine synthase
SOX3 SRY (sex determining region Y)-box 3
STS steroid sulfatase (microsomal), isozyme S
SYN1 synapsin I
SYP synaptophysin
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TAZ tafazzin
TBX22 T-box 22
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TRAPPC2 trafficking protein particle complex 2
TSPAN7 tetraspanin 7
TYR tyrosinase
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2A ubiquitin-conjugating enzyme E2A
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
WAS Wiskott-Aldrich syndrome
WDR45 WD repeat domain 45
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC15 zinc finger, DHHC-type containing 15
ZDHHC9 zinc finger, DHHC-type containing 9
ZFX zinc finger protein, X-linked
ZIC3 Zic family member 3
ZNF711 zinc finger protein 711
ZNF81 zinc finger protein 81