Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Leu1970Phe (p.L1970F)
(
ENST00000370225.4 )
ABCA4 p.Ile1562Thr (p.I1562T) ( ENST00000370225.4 )
ABCA4 p.Glu471Lys (p.E471K) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Leu1970Phe (p.L1970F) ( ENST00000370225.4 )
ABCA4 p.Ile1562Thr (p.I1562T) ( ENST00000370225.4 )
ABCA4 p.Glu471Lys (p.E471K) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- Macular Degeneration, Age-Related, 2
- 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
- 0.36
- Year of publication
- 2000
Drugs