Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Arg1898His (p.R1898H)
(
ENST00000370225.4 )
ABCA4 p.Arg572Pro (p.R572P) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Arg572Gln (p.R572Q) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg1898His (p.R1898H) ( ENST00000370225.4 )
ABCA4 p.Arg572Pro (p.R572P) ( ENST00000370225.4, ENST00000649773.1 )
ABCA4 p.Arg572Gln (p.R572Q) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- STARGARDT DISEASE 1 (disorder)
- Source Database
- DisGeNET
- Description
- Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
- Pubmed
- 10746567
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.442442976848723
- Year of publication
- 2000
Drugs