Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg2107Pro (p.R2107P)
(
ENST00000370225.4 )
ABCA4 p.Arg2107His (p.R2107H) ( ENST00000370225.4 )
ABCA4 p.Gly1961Glu (p.G1961E) ( ENST00000370225.4 )
ABCA4 p.Arg1108Cys (p.R1108C) ( ENST00000370225.4 )
ABCA4 p.Ala1038Val (p.A1038V) ( ENST00000370225.4 )
ABCA4 p.Val849Ala (p.V849A) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Ser206= (p.S206=) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Ser206Arg (p.S206R) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg2107Pro (p.R2107P) ( ENST00000370225.4 )
ABCA4 p.Arg2107His (p.R2107H) ( ENST00000370225.4 )
ABCA4 p.Gly1961Glu (p.G1961E) ( ENST00000370225.4 )
ABCA4 p.Arg1108Cys (p.R1108C) ( ENST00000370225.4 )
ABCA4 p.Ala1038Val (p.A1038V) ( ENST00000370225.4 )
ABCA4 p.Val849Ala (p.V849A) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Ser206= (p.S206=) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Ser206Arg (p.S206R) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- STARGARDT DISEASE 1 (disorder)
- Source Database
- DisGeNET
- Description
- Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were identified with possible disease-causing sequence variations in the ABCR gene from a group of 66 patients who were screened for sequence variations in this gene.
- Pubmed
- 10206579
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.442442976848723
- Year of publication
- 1999
Drugs