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
- Diabetes Mellitus, Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Recently, we reported a strong association between the eNOS4b/a endothelial nitric oxide synthase (eNOS) polymorphism and severe DR. To examine whether T-786C and C774T eNOS polymorphisms are involved in severe DR, 254 Caucasians with longstanding C-peptide-negative type 1 diabetes, 128 patients with absent/mild DR (control group), and 126 patients with preproliferative/proliferative DR (study group) were genotyped.
- Pubmed
- 15890549
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.139555084443098
- Year of publication
- 2005
Drugs