Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg18Trp (p.R18W)
(
ENST00000649773.1,
ENST00000370225.4 )
ABCA4 p.Arg18= (p.R18=) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg18Trp (p.R18W) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg18= (p.R18=) ( ENST00000649773.1, ENST00000370225.4 ) - Associated Disease
- STARGARDT DISEASE 1 (disorder)
- Source Database
- DisGeNET
- Description
- Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.
- Pubmed
- 9503029
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.442442976848723
- Year of publication
- 1998
Drugs