Male Pseudohermaphroditism Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0238395
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Genes

50 genes associated with the disease Male Pseudohermaphroditism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AKR1C2 aldo-keto reductase family 1, member C2
AKR1C4 aldo-keto reductase family 1, member C4
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
CEP55 centrosomal protein 55kDa
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COX7B cytochrome c oxidase subunit VIIb
CSPP1 centrosome and spindle pole associated protein 1
CYB5A cytochrome b5 type A (microsomal)
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
DHH desert hedgehog
DHRS11 dehydrogenase/reductase (SDR family) member 11
DMRT1 doublesex and mab-3 related transcription factor 1
HCCS holocytochrome c synthase
HHAT hedgehog acyltransferase
HSD11B1L hydroxysteroid (11-beta) dehydrogenase 1-like
HSD17B13 hydroxysteroid (17-beta) dehydrogenase 13
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
LGR6 leucine-rich repeat containing G protein-coupled receptor 6
LHCGR luteinizing hormone/choriogonadotropin receptor
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MKS1 Meckel syndrome, type 1
MNX1 motor neuron and pancreas homeobox 1
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
POR P450 (cytochrome) oxidoreductase
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SOX9 SRY (sex determining region Y)-box 9
SPATA7 spermatogenesis associated 7
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
TMEM107 transmembrane protein 107
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
WDPCP WD repeat containing planar cell polarity effector
WT1 Wilms tumor 1