Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg2107Cys (p.R2107C)
(
ENST00000370225.4 )
ABCA4 p.Arg2107Ser (p.R2107S) ( ENST00000370225.4 )
ABCA4 p.Val2050Leu (p.V2050L) ( ENST00000370225.4 )
ABCA4 p.Arg1300Gln (p.R1300Q) ( ENST00000370225.4 )
ABCA4 p.Val989Ala (p.V989A) ( ENST00000370225.4 )
ABCA4 p.Val643Met (p.V643M) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg2107Cys (p.R2107C) ( ENST00000370225.4 )
ABCA4 p.Arg2107Ser (p.R2107S) ( ENST00000370225.4 )
ABCA4 p.Val2050Leu (p.V2050L) ( ENST00000370225.4 )
ABCA4 p.Arg1300Gln (p.R1300Q) ( ENST00000370225.4 )
ABCA4 p.Val989Ala (p.V989A) ( ENST00000370225.4 )
ABCA4 p.Val643Met (p.V643M) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- STARGARDT DISEASE 1 (disorder)
- Source Database
- DisGeNET
- Description
- Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
- Pubmed
- 11527935
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.442442976848723
- Year of publication
- 2001
Drugs