Annotation Detail
Information
- Associated Genes
- CYP21A2
- Associated Variants
-
CYP21A2 p.Pro31Leu (p.P31L)
(
ENST00000435122.3,
ENST00000644719.2 )
CYP21A2 p.Pro31Leu (p.P31L) ( ENST00000435122.3, ENST00000644719.2 ) - Associated Disease
- 21-hydroxylase deficiency
- Source Database
- DisGeNET
- Description
- Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation.
- Pubmed
- 15670187
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.155016001498359
- Year of publication
- 2005
Drugs