Annotation Detail

Information
Associated Genes
CYP11B2
Associated Variants
ADD1 p.Gly460Trp (p.G460W) ( ENST00000264758.11, ENST00000398129.5, ENST00000683351.1 )
CYP11B2 c.-344T>C
ADD1 p.Gly460Trp (p.G460W) ( ENST00000264758.11, ENST00000398129.5, ENST00000683351.1 )
CYP11B2 c.-344T>C
Associated Disease
Hypertensive disease
Source Database
DisGeNET
Description
The ACE I/D, alpha-adducin Gly460Trp and aldosterone synthase -344C/T polymorphisms interact to influence systolic blood pressure in Chinese, suggesting that these genes might indeed predispose to hypertension, especially in an ecogenetic context characterized by a high salt intake.
Pubmed
15097233
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.143123487147592
Year of publication
2004
Drugs