Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Leu1971Arg (p.L1971R)
(
ENST00000370225.4 )
ABCA4 p.Leu1970Phe (p.L1970F) ( ENST00000370225.4 )
ABCA4 p.Leu1940Pro (p.L1940P) ( ENST00000370225.4 )
ABCA4 p.Leu1971Arg (p.L1971R) ( ENST00000370225.4 )
ABCA4 p.Leu1970Phe (p.L1970F) ( ENST00000370225.4 )
ABCA4 p.Leu1940Pro (p.L1940P) ( ENST00000370225.4 ) - Associated Disease
- Stargardt's disease
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.247101095935806
- Year of publication
- NA
Drugs