Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
CYP21A2 p.Ile173Asn (p.I173N)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Ile173Asn (p.I173N) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- Chronic active hepatitis
- Source Database
- DisGeNET
- Description
- To assess the contributions of pre- and postnatal androgens, the CAH subjects were categorized into genotype groups (G) according to the reported severity of loss of CYP21 function: G1 (n = 10, null mutations), G2 (n = 9, intron 2G), G3 (n = 3, I172N), and G4 (n = 2, unknown loss of function).
- Pubmed
- 14715880
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0423449320445273
- Year of publication
- 2004
Drugs