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
intracranial aneurysm
Source Database
DisGeNET
Description
Polymorphism in exon 7 of the endothelial nitric oxide synthase gene G894T seems to be a possible risk factor for intracranial aneurysm rupture.
Pubmed
18046500
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.09744568163985
Year of publication
2008
Drugs