Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
0.480 GeneticVariation disease BEFREE Deletion of the melanocortin-4-receptor (Mc4r) gene in mice causes hyperphagia, followed by hyperinsulinemia, obesity and progressive infertility. 28003536 2017
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
0.480 GeneticVariation disease BEFREE Homozygous MC4R mutations, M161T and I316S, identified separately in 2 subjects (3.2%), were associated with severe obesity, hyperphagia, hyperleptinemia and hyperinsulinemia. 22463805 2012
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
0.480 Biomarker disease CTD_human A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding. 23251400 2012
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
0.480 GeneticVariation disease BEFREE In sum, our data support the associations of variants rs17782313 and rs12970134 near MC4R with early onset obesity and increased insulin levels. 21372613 2011
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
0.480 Biomarker disease BEFREE Obesity due to melanocortin 4 receptor (MC4R) deficiency is associated with increased linear growth and final height, fasting hyperinsulinemia, and incompletely suppressed growth hormone secretion. 21047921 2011
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
0.480 Biomarker disease BEFREE As compared with control subjects, MC4R-deficient subjects had a lower increase in heart rate on waking (P=0.007), a lower heart rate during euglycemic hyperinsulinemia (P<0.001), and lower 24-hour urinary norepinephrine excretion (P=0.04). 19092146 2009
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
0.480 Biomarker disease BEFREE MC4R are necessary for melanocortin agonist-induced weight loss and improvements in liver metabolism, but are not required for improvements in hyperinsulinemia. 19646498 2009
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
0.480 GeneticVariation disease BEFREE MC4R variants were detected in three patients: the known I169S variant was found in heterozygote state in two patients and a novel heterozygous Y302F mutation was detected in one 12-year-old girl (BMI = 34 kg/m(2), BMI z-score 2.7) who has been overweight since the second year of life and suffered from hyperinsulinemia (at the age of 12: fasting insulin 45 mU/ml, after oral glucose load max.300 mU/ml). 19214805 2009
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
0.480 Biomarker disease BEFREE In addition, complete MC4R deficiency is not a cause of relative hyperinsulinemia as recently observed in children with heterozygous MC4R mutations. 15126516 2004
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
0.480 Biomarker disease HPO