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
essential hypertension
Source Database
DisGeNET
Description
Evidence for the involvement of eNOS single nucleotide polymorphisms in the development of essential hypertension is limited, though the eNOS Glu298Asp polymorphism appears to influence the blood pressure response to exercise.
Pubmed
12530931
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.210510288141011
Year of publication
2003
Drugs