ambiguous genitalia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. (Human Phenotype Ontology, HP_0000062)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000062
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Genes

64 genes associated with the ambiguous genitalia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AKR1C2 aldo-keto reductase family 1, member C2
ARX aristaless related homeobox
ATRX alpha thalassemia/mental retardation syndrome X-linked
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BDNF brain-derived neurotrophic factor
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
COX7B cytochrome c oxidase subunit VIIb
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FUZ fuzzy planar cell polarity protein
GATA4 GATA binding protein 4
GRIP1 glutamate receptor interacting protein 1
HCCS holocytochrome c synthase
HOXD13 homeobox D13
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
ICK intestinal cell (MAK-like) kinase
IFT80 intraflagellar transport 80
IRF6 interferon regulatory factor 6
LHB luteinizing hormone beta polypeptide
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MKS1 Meckel syndrome, type 1
NEK1 NIMA-related kinase 1
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
PAX6 paired box 6
PHGDH phosphoglycerate dehydrogenase
POR P450 (cytochrome) oxidoreductase
PSAT1 phosphoserine aminotransferase 1
RIPK4 receptor-interacting serine-threonine kinase 4
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SC5D sterol-C5-desaturase
SHH sonic hedgehog
SOX3 SRY (sex determining region Y)-box 3
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
TBX15 T-box 15
TCTN2 tectonic family member 2
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TNXB tenascin XB
TSPYL1 TSPY-like 1
VAMP7 vesicle-associated membrane protein 7
VANGL1 VANGL planar cell polarity protein 1
WDPCP WD repeat containing planar cell polarity effector
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase