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
Vascular Diseases
Source Database
DisGeNET
Description
The Glu298Asp (G894T) polymorphic variant of eNOS has been associated with vascular disease, but functional data are lacking.
Pubmed
11298374
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0186311382166819
Year of publication
2001
Drugs