Annotation Detail

Information
Associated Genes
MC4R
Associated Variants
MC4R p.Ile251Leu (p.I251L) ( ENST00000299766.5 )
MC4R p.Ile251Leu (p.I251L) ( ENST00000299766.5 )
Associated Disease
diabetes mellitus
Source Database
DisGeNET
Description
However, carriers of MC4R (I251L), a rare variant associated with increased weight loss after RYGB and increased basal activity in vitro, were more likely to have early and weight-independent resolution of diabetes than noncarriers, indicating a role for MC4Rs in the effects of RYGB.
Pubmed
23159449
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00399568321108385
Year of publication
2013
Drugs