Annotation Detail

Information
Associated Genes
AMPD1
Associated Variants
AMPD1 p.Gln12Ter (p.Q12*) ( ENST00000369538.4, ENST00000520113.7 )
AMPD1 p.Gln12Ter (p.Q12*) ( ENST00000369538.4, ENST00000520113.7 )
Associated Disease
Metabolic syndrome X
Source Database
DisGeNET
Description
[Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure.]
Pubmed
18855224
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.00263847385068233
Year of publication
2009
Drugs