Annotation Detail
Information
- Associated Genes
- ABCA1
- Associated Variants
-
ABCA1 MUTATION
ABCA1 MUTATION
ABCA1 p.Arg219Lys (p.R219K) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 )
ABCA1 p.Arg219Lys (p.R219K) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 ) - Associated Disease
- Cerebrovascular accident
- Source Database
- DisGeNET
- Description
- Our data confirm earlier observations that ABCA1 R219K and V771M polymorphisms may be associated with a protective role against CHD and extend those to another important pathologic condition, namely stroke.
- Pubmed
- 16446539
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0110967791468899
- Year of publication
- 2006
Drugs