Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 GeneticVariation CLINVAR Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population. 26179253

2015
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene. 25332687

2014
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 GeneticVariation CLINVAR High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families. 22463805

2012
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children. 20966905

2011
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 GeneticVariation CLINVAR Obesity-linked variants of melanocortin-4 receptor are misfolded in the endoplasmic reticulum and can be rescued to the cell surface by a chemical chaperone. 20631012

2010
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor. 18801902

2009
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway. 19301229

2009
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. 19091795

2009
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees. 18559663

2008
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor. 17628007

2007
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating. 16507637

2006
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Obesity-associated mutations in the human melanocortin-4 receptor gene. 16274851

2006
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR This study shows a carrier frequency of 2.5% of pathogenic mutations in the MC4R gene in a population-based study of obese men. 15486053

2005
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians. 15448103

2004
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 GeneticVariation CLINVAR We examined the functional properties of 12 different mutations in human MC4R that result in severe, familial, early-onset obesity. 12588803

2003
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity. 12970296

2003
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Mutations in MC4R result in a distinct obesity syndrome that is inherited in a codominant manner. 12646665

2003
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR We examined the functional properties of 12 different mutations in human MC4R that result in severe, familial, early-onset obesity. 12588803

2003
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 GeneticVariation CLINVAR Mutations in MC4R result in a distinct obesity syndrome that is inherited in a codominant manner. 12646665

2003
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity. 12690102

2003
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. 10903343

2000
Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity 		1.000 CausalMutation CLINVAR Both the index patient (BMI 42.06 kg/m2, height 171 cm, age 19.6 years) and her mother (BMI 37.55 kg/m2, height 164 cm, age 42.5 years) were heterozygous for the deletion. b) A nonsense mutation at position 35 of the MC4-R was detected in two obese probands (BMI 31.29 kg/m2 and BMI 45.91 kg/m2). 10199800

1999