Annotation Detail
Information
- Associated Genes
- ACE
- 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
- systemic scleroderma
- Source Database
- DisGeNET
- Description
- High prevalence of polymorphisms of angiotensin-converting enzyme (I/D) and endothelial nitric oxide synthase (Glu298Asp) in patients with systemic sclerosis.
- Pubmed
- 12015245
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0170883633759849
- Year of publication
- 2002
Drugs