Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA1 p.Lys1587Arg (p.K1587R)
(
ENST00000374736.8,
ENST00000678995.1 )
ABCA1 p.Ile883Met (p.I883M) ( ENST00000374736.8, ENST00000678995.1 )
ABCA1 p.Arg219Lys (p.R219K) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 )
ABCA1 p.Lys1587Arg (p.K1587R) ( ENST00000374736.8, ENST00000678995.1 )
ABCA1 p.Ile883Met (p.I883M) ( ENST00000374736.8, ENST00000678995.1 )
ABCA1 p.Arg219Lys (p.R219K) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- The aim of the present study was to investigate the relationship between R219K, M883I, and R1587K variants of the ATP-binding cassette transporter subfamily A number 1 (ABCA1) gene and response to rosiglitazone treatment in newly diagnosed patients with type 2 diabetes.
- Pubmed
- 18215356
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00318135759484294
- Year of publication
- 2008
Drugs