MC4R, melanocortin 4 receptor, 4160

N. diseases: 149; N. variants: 58
Disease: Monogenic Obesity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4054476
Disease: Monogenic Obesity
Monogenic Obesity 		0.100 GeneticVariation phenotype BEFREE Taken together, gain-of-function mutations I251L and V103I may be responsible for a preventive fraction of obesity of 2%, which mirrors the prevalence of monogenic obesity due to MC4R haploinsufficiency. 17519222 2007
CUI: C4054476
Disease: Monogenic Obesity
Monogenic Obesity 		0.100 GeneticVariation phenotype BEFREE A few mutations in these genes, such as in the leptin receptor (LEPR) gene and melanocortin 4 receptor (MC4R) gene, have been identified as causes of monogenic obesity. 12646666 2003