Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Ile1562Thr (p.I1562T)
(
ENST00000370225.4 )
ABCA4 p.Ile1562Thr (p.I1562T) ( ENST00000370225.4 ) - Associated Disease
- CONE-ROD DYSTROPHY 3 (disorder)
- Source Database
- DisGeNET
- Description
- A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
- Pubmed
- 10958763
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- 2000
Drugs