Annotation Detail
Information
- Associated Genes
- ARMS2
- Associated Variants
-
ARMS2 p.Ala69Ser (p.A69S)
(
ENST00000528446.1 )
ARMS2 p.Ala69Ser (p.A69S) ( ENST00000528446.1 ) - Associated Disease
- Geographic Atrophy
- Source Database
- DisGeNET
- Description
- In this series, in patients with geographic atrophy or choroidal neovascularization in at least 1 eye, the ARMS2 A69S substitution strongly associated with geographic atrophy or choroidal neovascularization in the fellow eye.
- Pubmed
- 22481475
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00981551465660913
- Year of publication
- 2012
Drugs