male pseudohermaphroditism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. (Human Phenotype Ontology, HP_0000037)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000037
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Genes

36 genes associated with the male pseudohermaphroditism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AMH anti-Mullerian hormone
AMHR2 anti-Mullerian hormone receptor, type II
AR androgen receptor
ATRX alpha thalassemia/mental retardation syndrome X-linked
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
CBX2 chromobox homolog 2
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
COX7B cytochrome c oxidase subunit VIIb
CYB5A cytochrome b5 type A (microsomal)
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
DHH desert hedgehog
DMRT1 doublesex and mab-3 related transcription factor 1
DMRT2 doublesex and mab-3 related transcription factor 2
HCCS holocytochrome c synthase
HHAT hedgehog acyltransferase
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
LHB luteinizing hormone beta polypeptide
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MKS1 Meckel syndrome, type 1
MNX1 motor neuron and pancreas homeobox 1
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SOX9 SRY (sex determining region Y)-box 9
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRY sex determining region Y
TCTN2 tectonic family member 2
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
WDPCP WD repeat containing planar cell polarity effector
WT1 Wilms tumor 1