Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Gly863Ala (p.G863A)
(
ENST00000370225.4,
ENST00000649773.1 )
ABCA4 p.Gly863Ala (p.G863A) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- STARGARDT DISEASE 1 (disorder)
- Source Database
- DisGeNET
- Description
- A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
- Pubmed
- 10612508
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.442442976848723
- Year of publication
- 1999
Drugs