Annotation Detail
Information
- Associated Genes
- NOS3
- Associated Variants
-
NOS3 c.-51-735C>T
(
ENST00000297494.8,
ENST00000461406.5 )
NOS3 c.-51-735C>T ( ENST00000297494.8, ENST00000461406.5 ) - Associated Disease
- systemic scleroderma
- Source Database
- DisGeNET
- Description
- Intron 4 aa genotype of eNOS gene is protective and homozygosity (CC) of T-786C promoter region is a risk factor for SSc in Turkish population.
- Pubmed
- 20406610
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0165454796318243
- Year of publication
- 2010
Drugs