Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Gly1961Glu (p.G1961E)
(
ENST00000370225.4 )
ABCA4 p.Gly1961Glu (p.G1961E) ( ENST00000370225.4 ) - Associated Disease
- Disorder of macula of retina
- Source Database
- DisGeNET
- Description
- G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
- Pubmed
- 19217903
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00399568321108385
- Year of publication
- 2009
Drugs