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 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 GeneticVariation BEFREE Six other SNPs, rs2815752 (NEGR1), rs10938397 (GNPDA2), rs10838738 (MTCH2), rs7498665 (SH2B1), rs17782313 (MC4R) and rs11084753 (KCTD15), were not associated with obesity (P>0.05). 22083549

2012

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation BEFREE Melanocortin-4 receptor polymorphism rs17782313: association with obesity and eating in the absence of hunger in Chilean children. 24139164

2014

Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation BEFREE PPARγ Pro12Ala interacts with fat intake for obesity and weight loss in a behavioural treatment based on the Mediterranean diet. 22102511

2011

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation BEFREE Most of these obesity disorders exhibit a distinct phenotype with varying degrees of hypothalamic and pituitary dysfunction and a recessive inheritance, whereas MC4-R mutation has a nonsyndromic phenotype with dominant inheritance. 10508193

1999

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation BEFREE Metabolic and hormonal consequencies of the "obesity risk" MC4R variant (rs12970134) in Czech women. 26680479

2015

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation BEFREE MC4R mutations are not a common cause of obesity in Norway and screening of obese patients does not appear to be warranted. 19301229

2009

Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0028754
Disease: Obesity
Obesity
1.000 AlteredExpression BEFREE Understanding the role natural products play, as well as the mechanisms behind their regulation of PPARγ activity is critical for future research into their therapeutic potential for fighting obesity. 27669202

2016

Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker CTD_human Up-regulation of peroxisome proliferator-activated receptors (PPAR-alpha) and PPAR-gamma messenger ribonucleic acid expression in the liver in murine obesity: troglitazone induces expression of PPAR-gamma-responsive adipose tissue-specific genes in the liver of obese diabetic mice. 11089532

2000

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation BEFREE Recently, Pomc knockout mice were generated and shown to develop hyperphagia and obesity with a time-course and severity comparable to MC4-R knockout mice, whereas daily administration of a stable alpha-melanocyte stimulating hormone analogue reversed this effect. 10885325

2000

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation BEFREE As the MC4R locus explains only 0.28% of the BMI and 0.14% of the WC phenotypic variance in the Scottish population, most of the genetic contribution to obesity remains to be identified. 19050674

2009

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation BEFREE In conclusion, this study confirmed and extended the previous findings, suggesting the MC4R V103I polymorphism is negatively associated with human obesity. 19696756

2010

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation UNIPROT In conclusion, a pathogenic MC4R mutation was found among subjects with severe early-onset obesity but not among morbidly obese adults. 14764818

2004

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker CTD_human UBE41 had much less profound effects on MC4R I316S, another obesity-linked MC4R variant trapped in the ER. 23251400

2012

Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation BEFREE We further show that in the context of diet-induced obesity PPARγ-K107R-mutant mice have enhanced insulin sensitivity without the corresponding increase in adiposity that typically accompanies PPARγ activation by TZDs. 30420515

2018

Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0028754
Disease: Obesity
Obesity
1.000 AlteredExpression BEFREE This modification of PPARgamma does not alter its adipogenic capacity, but leads to dysregulation of a large number of genes whose expression is altered in obesity, including a reduction in the expression of the insulin-sensitizing adipokine, adiponectin. 20651683

2010

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity
1.000 Biomarker CTD_human Point mutations in the melanocortin-4 receptor cause variable obesity in mice. 17143585

2006

Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0028754
Disease: Obesity
Obesity
1.000 AlteredExpression BEFREE Resistin / Fizz3 expression in relation to obesity and peroxisome proliferator-activated receptor-gamma action in humans. 11574398

2001

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: 5468
Gene Symbol: PPARG
PPARG
CUI: C0028754
Disease: Obesity
Obesity
1.000 AlteredExpression BEFREE This review highlights the roles that PPARgamma play in the regulation of gene expression associated with normal cell physiology as well as the pathophysiology of multiple diseases including obesity, diabetes and cancer. 11900961

2002

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation BEFREE Heterozygous mutations in melanocortin-4 receptor (MC4R) are the most frequent genetic cause of obesity. 20957447

2011

Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation BEFREE The fat mass and obesity-associated gene (FTO) rs9939609 and peroxisome proliferator-activated receptor gamma 2 gene (PPARG2) rs1801282 polymorphisms are type 2 diabetes mellitus susceptibility gene variants associated with obesity. 24969838

2014

Entrez Id: 5468
Gene Symbol: PPARG
PPARG
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation UNIPROT Obesity associated with a mutation in a genetic regulator of adipocyte differentiation. 9753710

1998

Entrez Id: 4160
Gene Symbol: MC4R
MC4R
CUI: C0028754
Disease: Obesity
Obesity
1.000 GeneticVariation BEFREE In our study, we addressed the hypothesis that a G-->A substitution at codon 103 (Val-103Ile) of the MC4R gene influences abdominal obesity, insulin, glucose, and lipid metabolism as well as circulating hormones, including salivary cortisol. 11692184

2001