Annotation Detail

Information
Associated Genes
NOS3
Associated Variants
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
Associated Disease
Polycystic Kidney, Autosomal Dominant
Source Database
DisGeNET
Description
Modifier effect of the Glu298Asp polymorphism of endothelial nitric oxide synthase gene in autosomal-dominant polycystic kidney disease.
Pubmed
18815450
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00780580094187224
Year of publication
2008
Drugs