Annotation Detail
Information
- Associated Genes
- NOS3
- Associated Variants
-
NOS3 c.-51-735C>T
(
ENST00000297494.8,
ENST00000461406.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 c.-51-735C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 ) - Associated Disease
- systemic scleroderma
- Source Database
- DisGeNET
- Description
- We investigated haemorheological variables in patients with idiopathic sudden sensorineural hearing loss (ISSHL), retinal vein occlusion (RVO) and systemic sclerosis (SSc), as possible models of microvascular damage, and their relationship with eNOS gene T-786C, G894T and 4a/4b polymorphisms.
- Pubmed
- 17634663
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0165454796318243
- Year of publication
- 2007
Drugs