x-linked recessive inheritance Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. (Human Phenotype Ontology, HP_0001419)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001419
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111 genes associated with the x-linked recessive 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
AFF2 AF4/FMR2 family, member 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ALAS2 5'-aminolevulinate synthase 2
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
AR androgen receptor
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
BRWD3 bromodomain and WD repeat domain containing 3
BTK Bruton agammaglobulinemia tyrosine kinase
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CD40LG CD40 ligand
CFP complement factor properdin
CHRDL1 chordin-like 1
CLCN5 chloride channel, voltage-sensitive 5
CLIC2 chloride intracellular channel 2
COL4A6 collagen, type IV, alpha 6
CUL4B cullin 4B
CYBB cytochrome b-245, beta polypeptide
DKC1 dyskeratosis congenita 1, dyskerin
DMD dystrophin
EDA ectodysplasin A
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
FOXP3 forkhead box P3
FRMD7 FERM domain containing 7
GATA1 GATA binding protein 1 (globin transcription factor 1)
GJB1 gap junction protein, beta 1, 32kDa
GK glycerol kinase
GLA galactosidase, alpha
GPC3 glypican 3
GPR179 G protein-coupled receptor 179
GRIA3 glutamate receptor, ionotropic, AMPA 3
HCFC1 host cell factor C1
HDAC8 histone deacetylase 8
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
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
KIAA2022 KIAA2022
L1CAM L1 cell adhesion molecule
MAMLD1 mastermind-like domain containing 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MID1 midline 1
MTM1 myotubularin 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NDP Norrie disease (pseudoglioma)
NR0B1 nuclear receptor subfamily 0, group B, member 1
NSDHL NAD(P) dependent steroid dehydrogenase-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
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PGK1 phosphoglycerate kinase 1
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
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
RPGR retinitis pigmentosa GTPase regulator
SAT1 spermidine/spermine N1-acetyltransferase 1
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
SH2D1A SH2 domain containing 1A
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMC1A structural maintenance of chromosomes 1A
SMS spermine synthase
STS steroid sulfatase (microsomal), isozyme S
SYN1 synapsin I
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TAZ tafazzin
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TRAPPC2 trafficking protein particle complex 2
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
ZC4H2 zinc finger, C4H2 domain containing
ZNF81 zinc finger protein 81