Annotation Detail
Information
- Associated Genes
- CYP11B2
- Associated Variants
-
CYP11B2 p.Lys173Arg (p.K173R)
(
ENST00000323110.2 )
CYP11B2 c.-344T>C
CYP11B2 p.Lys173Arg (p.K173R) ( ENST00000323110.2 )
CYP11B2 c.-344T>C - Associated Disease
- High altitude pulmonary edema
- Source Database
- DisGeNET
- Description
- The single-locus analysis showed that CYP11B2 C-344T and K173R and ACE A-240T polymorphisms were significantly associated with HAPE after Bonferroni correction (P<0.005).
- Pubmed
- 17987391
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2008
Drugs