Ambiguous Genitalia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0266362
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Genes

109 genes associated with the disease Ambiguous Genitalia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADAR adenosine deaminase, RNA-specific
AKR1C1 aldo-keto reductase family 1, member C1
AKR1C2 aldo-keto reductase family 1, member C2
AKR1C3 aldo-keto reductase family 1, member C3
AKR1C4 aldo-keto reductase family 1, member C4
AMH anti-Mullerian hormone
AR androgen receptor
ARX aristaless related homeobox
ATRX alpha thalassemia/mental retardation syndrome X-linked
B9D1 B9 protein domain 1
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
CDON cell adhesion associated, oncogene regulated
CEP120 centrosomal protein 120kDa
CEP57 centrosomal protein 57kDa
CHD4 chromodomain helicase DNA binding protein 4
COX7B cytochrome c oxidase subunit VIIb
CTU2 cytosolic thiouridylase subunit 2 homolog (S. pombe)
CYB5A cytochrome b5 type A (microsomal)
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHRS11 dehydrogenase/reductase (SDR family) member 11
DISP1 dispatched homolog 1 (Drosophila)
DLL1 delta-like 1 (Drosophila)
DMRT3 doublesex and mab-3 related transcription factor 3
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EFNB2 ephrin-B2
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FOXH1 forkhead box H1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FUZ fuzzy planar cell polarity protein
FZD2 frizzled class receptor 2
GAS1 growth arrest-specific 1
GATA4 GATA binding protein 4
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GRIP1 glutamate receptor interacting protein 1
HCCS holocytochrome c synthase
HOXD13 homeobox D13
HSD17B13 hydroxysteroid (17-beta) dehydrogenase 13
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ICK intestinal cell (MAK-like) kinase
IFT80 intraflagellar transport 80
IFT81 intraflagellar transport 81
IRF6 interferon regulatory factor 6
LHCGR luteinizing hormone/choriogonadotropin receptor
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MYRF myelin regulatory factor
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NEK1 NIMA-related kinase 1
NODAL nodal growth differentiation factor
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR5A1 nuclear receptor subfamily 5, group A, member 1
PAX6 paired box 6
PBX1 pre-B-cell leukemia homeobox 1
PGD phosphogluconate dehydrogenase
PHGDH phosphoglycerate dehydrogenase
POMC proopiomelanocortin
POR P450 (cytochrome) oxidoreductase
PRSS21 protease, serine, 21 (testisin)
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
RIPK4 receptor-interacting serine-threonine kinase 4
SHBG sex hormone-binding globulin
SHH sonic hedgehog
SIX3 SIX homeobox 3
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
STAR steroidogenic acute regulatory protein
SUFU suppressor of fused homolog (Drosophila)
TBC1D24 TBC1 domain family, member 24
TDGF1 teratocarcinoma-derived growth factor 1
TGIF1 TGFB-induced factor homeobox 1
TOE1 target of EGR1, member 1 (nuclear)
TRAIP TRAF interacting protein
TRIP13 thyroid hormone receptor interactor 13
TSPYL1 TSPY-like 1
TWIST2 twist family bHLH transcription factor 2
TXNDC15 thioredoxin domain containing 15
VAMP7 vesicle-associated membrane protein 7
VANGL1 VANGL planar cell polarity protein 1
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WNT4 wingless-type MMTV integration site family, member 4
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
ZCCHC16 zinc finger, CCHC domain containing 16
ZCCHC5 zinc finger, CCHC domain containing 5
ZFPM2 zinc finger protein, FOG family member 2
ZFY zinc finger protein, Y-linked
ZIC2 Zic family member 2