Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Val1433Ile (p.V1433I)
(
ENST00000370225.4 )
ABCA4 p.Arg1129Leu (p.R1129L) ( ENST00000370225.4 )
ABCA4 p.Val931Met (p.V931M) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Ile156Val (p.I156V) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Val1433Ile (p.V1433I) ( ENST00000370225.4 )
ABCA4 p.Arg1129Leu (p.R1129L) ( ENST00000370225.4 )
ABCA4 p.Val931Met (p.V931M) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Ile156Val (p.I156V) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- STARGARDT DISEASE 1 (disorder)
- Source Database
- DisGeNET
- Description
- Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
- Pubmed
- 18977788
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.442442976848723
- Year of publication
- 2009
Drugs