Annotation Detail
Information
- Associated Genes
- ABCA1
- Associated Variants
-
ABCA1 p.Arg230Cys (p.R230C)
(
ENST00000374736.8,
ENST00000423487.6,
ENST00000678995.1 )
ABCA1 p.Arg230Cys (p.R230C) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- The R230C variant of the ATP binding cassette protein A1 (ABCA1) gene is associated with a decreased response to glyburide therapy in patients with type 2 diabetes mellitus.
- Pubmed
- 23273975
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0247224115342875
- Year of publication
- 2013
Drugs