Annotation Detail

Information
Associated Genes
ADRB3
Associated Variants
ADRB3 p.Trp64Arg (p.W64R) ( ENST00000345060.5 )
ADRB3 p.Trp64Arg (p.W64R) ( ENST00000345060.5 )
Associated Disease
Metabolic syndrome X
Source Database
DisGeNET
Description
We recently identified a mutation in the human beta 3-adrenergic receptor (beta 3AR) gene (codon 64 TGGTrp -> CGGArg; TRP64ARG) that associates with features of the insulin resistance syndrome and an earlier onset of noninsulin-dependent diabetes mellitus (NIDDM).
Pubmed
8923875
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0288277153555461
Year of publication
1996
Drugs