Annotation Detail

Information
Associated Genes
REN
Associated Variants
NOS3 p.Ser226Leu (p.S226L) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 p.Ser226Leu (p.S226L) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
Associated Disease
acute myocardial infarction
Source Database
DisGeNET
Description
Few studies were performed on genetics of the renin-angiotensin-aldosterone system and the results are insufficient and contradictory, such as those about the association between the polymorphism G894T in the eNOS gene or the polymorphism C677T in the MTHFR gene and young AMI.
Pubmed
15284679
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00162865123248182
Year of publication
2004
Drugs