Annotation Detail
Information
- Associated Genes
- ADD1
- Associated Variants
-
ADD1 p.Gly460Trp (p.G460W)
(
ENST00000264758.11,
ENST00000398129.5,
ENST00000683351.1 )
ADD1 p.Gly460Trp (p.G460W) ( ENST00000264758.11, ENST00000398129.5, ENST00000683351.1 ) - Associated Disease
- Hypertensive disease
- Source Database
- DisGeNET
- Description
- Genetic variability in the ADD1 (Gly460Trp) and ADD2 (C1797T) subunits of the cytoskeleton protein adducin plays a role in the pathogenesis of hypertension, possibly via changes in intracellular cation concentrations.
- Pubmed
- 17301826
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.320805664507023
- Year of publication
- 2007
Drugs