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
Association of the ATP-binding cassette transporter A1 R230C variant with early-onset type 2 diabetes in a Mexican population.
Pubmed
18003760
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0247224115342875
Year of publication
2008
Drugs