MC4R, melanocortin 4 receptor, 4160

N. diseases: 149; N. variants: 58
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.120 Biomarker disease BEFREE Leptin injections into the cerebral ventricle attenuated mortality and elevated blood glucose in total insulin-deficient MC4R KO mice. 30698681 2019
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.120 CausalMutation disease CLINVAR Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort. 27654141 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.120 CausalMutation disease CLINVAR Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 12646665 2003
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.120 CausalMutation disease CLINVAR The Protein Data Bank. 10592235 2000
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.120 CausalMutation disease CLINVAR Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. 10199800 1999
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
0.120 GeneticVariation disease BEFREE Inactivation of the melanocortin-4 receptor (MC4-R) by gene-targeting results in mice that develop maturity-onset obesity, hyperinsulinemia, and hyperglycemia. 10078568 1999