Annotation Detail

Information
Associated Genes
TRIB3
Associated Variants
TRIB3 p.Gln111Arg (p.Q111R) ( ENST00000217233.9, ENST00000422053.3, ENST00000449710.6, ENST00000615226.5, ENST00000714424.1, ENST00000714425.1, ENST00000714426.1, ENST00000714427.1, ENST00000714428.1 )
IRS1 p.Gly971Trp (p.G971W) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
ENPP1 p.Lys173Gln (p.K173Q) ( ENST00000647893.1 )
TRIB3 p.Gln111Arg (p.Q111R) ( ENST00000217233.9, ENST00000422053.3, ENST00000449710.6, ENST00000615226.5, ENST00000714424.1, ENST00000714425.1, ENST00000714426.1, ENST00000714427.1, ENST00000714428.1 )
IRS1 p.Gly971Trp (p.G971W) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
ENPP1 p.Lys173Gln (p.K173Q) ( ENST00000647893.1 )
Associated Disease
Cardiovascular Diseases
Source Database
DisGeNET
Description
We investigated the combined role of single nucleotide polymorphisms (SNPs) affecting insulin signaling (ENPP1 K121Q, rs1044498; IRS1 G972R, rs1801278; TRIB3 Q84R, rs2295490) on CVD, age at myocardial infarction (MI), in vivo insulin sensitivity and in vitro insulin-stimulated nitric oxide synthase (NOS) activity.
Pubmed
23107043
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2013
Drugs