Annotation Detail

Information
Associated Genes
NOS3
Associated Variants
NOS3 c.-51-735C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Asp258= (p.D258=) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 c.-51-735C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Asp258= (p.D258=) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
Associated Disease
diabetic retinopathy
Source Database
DisGeNET
Description
The T-786C and C774T endothelial nitric oxide synthase gene polymorphisms independently affect the onset pattern of severe diabetic retinopathy.
Pubmed
15890549
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.118367906965013
Year of publication
2005
Drugs