Urogenital Sinus Anomaly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A rare birth defect in women where the urethra and vagina both open into a common channel. (Human Phenotype Ontology, HP_0100779)
External Link https://www.disgenet.org/browser/0/1/0/C4021972
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Genes

18 genes associated with the disease Urogenital Sinus Anomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
CHRM3 cholinergic receptor, muscarinic 3
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
DMRT3 doublesex and mab-3 related transcription factor 3
GATA4 GATA binding protein 4
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MKKS McKusick-Kaufman syndrome
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
POR P450 (cytochrome) oxidoreductase
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
VAMP7 vesicle-associated membrane protein 7
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
ZFPM2 zinc finger protein, FOG family member 2