x-linked dominant inheritance Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. (Human Phenotype Ontology, HP_0001423)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001423
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Genes

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

Symbol Name
ALAS2 5'-aminolevulinate synthase 2
AMELX amelogenin, X-linked
AMER1 APC membrane recruitment protein 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
BCOR BCL6 corepressor
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDKL5 cyclin-dependent kinase-like 5
CHM choroideremia (Rab escort protein 1)
COL4A5 collagen, type IV, alpha 5
COX7B cytochrome c oxidase subunit VIIb
EBP emopamil binding protein (sterol isomerase)
EDA ectodysplasin A
EFNB1 ephrin-B1
FHL1 four and a half LIM domains 1
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRMD7 FERM domain containing 7
GJB1 gap junction protein, beta 1, 32kDa
GK glycerol kinase
HCCS holocytochrome c synthase
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
KDM6A lysine (K)-specific demethylase 6A
LAMP2 lysosomal-associated membrane protein 2
MECP2 methyl CpG binding protein 2
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)
NSDHL NAD(P) dependent steroid dehydrogenase-like
NUBPL nucleotide binding protein-like
OFD1 oral-facial-digital syndrome 1
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PHEX phosphate regulating endopeptidase homolog, X-linked
PLS3 plastin 3
PORCN porcupine homolog (Drosophila)
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RS1 retinoschisin 1
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMPX small muscle protein, X-linked
SYN1 synapsin I
SYP synaptophysin
WDR45 WD repeat domain 45
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