Annotation Detail

Information
Associated Genes
LEP
Associated Variants
LEPR p.Gln223Arg (p.Q223R) ( ENST00000344610.12, ENST00000371058.1, ENST00000371060.7, ENST00000616738.4, ENST00000371059.7, ENST00000349533.11 )
POMC c.-51+266C>G ( ENST00000264708.7, ENST00000380794.5, ENST00000395826.7, ENST00000405623.5 )
rs3754860
rs7799039
LEPR p.Gln223Arg (p.Q223R) ( ENST00000344610.12, ENST00000349533.11, ENST00000371058.1, ENST00000371059.7, ENST00000371060.7, ENST00000616738.4 )
POMC c.-51+266C>G ( ENST00000264708.7, ENST00000380794.5, ENST00000395826.7, ENST00000405623.5 )
rs3754860
rs7799039
Associated Disease
congestive heart failure
Source Database
DisGeNET
Description
The aim of this study was to investigate the possible associations of defined variability in leptin (dbSNP ID rs7799039), proopiomelanocortin (dbSNP ID rs3754860 and dbSNP ID rs1009388), and leptin receptor gene (dbSNP rs1137101) with CHF and evaluate their potential as the CHF susceptibility genes.
Pubmed
19337797
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Year of publication
2009
Drugs