MC4R, melanocortin 4 receptor, 4160

N. diseases: 149; N. variants: 58
Disease: Bulimia Nervosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2267227
Disease: Bulimia Nervosa
Bulimia Nervosa 		0.030 GeneticVariation disease BEFREE The coding region of the MC4R gene was sequenced in nonobese patients with binge-eating behavior diagnosed with bulimia nervosa or binge-eating disorder (n=77); individuals with severe early-onset obesity (n=170); and lean women with anorexia nervosa (n=20). 25419636 2015
CUI: C2267227
Disease: Bulimia Nervosa
Bulimia Nervosa 		0.030 GeneticVariation disease LHGDN Genetic predisposition to obesity in bulimia nervosa: a mutation screen of the melanocortin-4 receptor gene. 12140789 2002
CUI: C2267227
Disease: Bulimia Nervosa
Bulimia Nervosa 		0.030 GeneticVariation disease BEFREE A single patient with both extreme obesity and BN had a haplo-insufficiency mutation in the MC4R. 12140789 2002
CUI: C2267227
Disease: Bulimia Nervosa
Bulimia Nervosa 		0.030 GeneticVariation disease BEFREE We screened the coding region of the MC4-R in 306 extremely obese children and adolescents (mean body mass index: BMI 34.4 +/- 6.6 kg/m2), 25 healthy underweight students (mean BMI 17.1 +/- 0.8 kg/m2), 52 normal weight individuals (mean BMI 22.0 +/- 1.0 kg/m2), 51 inpatients with anorexia nervosa (AN, DSM IV criteria, mean BMI 14.3 +/- 1.5 kg/m2) and 27 patients with bulimia nervosa (BN, DSM IV criteria, mean BMI 21.7 +/- 5.8 kg/m2) by single strand conformation polymorphism analysis (SSCP). 10199800 1999