Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Ala1038Val (p.A1038V)
(
ENST00000370225.4 )
ABCA4 p.Ala1038Val (p.A1038V) ( ENST00000370225.4 ) - Associated Disease
- CONE-ROD DYSTROPHY 3 (disorder)
- Source Database
- DisGeNET
- Description
- Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
- Pubmed
- 10206579
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- 1999
Drugs