Annotation Detail
Information
- Associated Genes
- PPIG
- Associated Variants
-
PPIG MUTATION
PPIG MUTATION - Associated Disease
- congenital adrenal hyperplasia
- Source Database
- DisGeNET
- Description
- A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
- Pubmed
- 25319875
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs