Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Asp2177Asn (p.D2177N)
(
ENST00000370225.4 )
ABCA4 p.Gly1961Glu (p.G1961E) ( ENST00000370225.4 )
ABCA4 p.Asp2177Asn (p.D2177N) ( ENST00000370225.4 )
ABCA4 p.Gly1961Glu (p.G1961E) ( ENST00000370225.4 ) - Associated Disease
- age related macular degeneration
- Source Database
- DisGeNET
- Description
- Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.
- Pubmed
- 25921964
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.168834587844306
- Year of publication
- 2015
Drugs