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
Hypernatremia
Source Database
DisGeNET
Description
The Gly460Trp variant of the alpha-adducin gene has been associated with renal sodium retention and salt-sensitive hypertension.
Pubmed
18458162
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2008
Drugs