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
- intracranial aneurysm
- Source Database
- DisGeNET
- Description
- Among patients with aneurysms, those with heterozygous (T/C) endothelial nitric oxide synthase (eNOS) T-786C single nucleotide polymorphism (SNP), a mutation reducing endothelial nitric oxide synthesis, are reported to have larger ruptured intracranial aneurysms (IAs) than those with homozygous (C/C or T/T) genotype.
- Pubmed
- 15658098
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.09744568163985
- Year of publication
- 2005
Drugs