Annotation Detail
Information
- Associated Genes
- CYP11B2
- Associated Variants
-
CYP11B2 c.-344T>C
CYP11B2 c.-344T>C - Associated Disease
- Hypertensive disease
- Source Database
- DisGeNET
- Description
- We previously described an association between the -344C/T 5'-untranslated region (UTR) polymorphism in the CYP11B2 (aldosterone synthase) gene and hypertension with a raised aldosterone to renin ratio (ARR); the same genetic variant is also associated with impaired adrenal 11beta-hydroxylase efficiency.
- Pubmed
- 17121536
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.143123487147592
- Year of publication
- 2006
Drugs