MC4R, melanocortin 4 receptor, 4160

N. diseases: 149; N. variants: 58
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1611159
Disease: Lack of satiety
Lack of satiety 		disease Mental Disorders Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2014 2014
CUI: C4273958
Disease: Obesity due to melanocortin 4 receptor deficiency
Obesity due to melanocortin 4 receptor deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2000 2000
CUI: C1857854
Disease: Proopiomelanocortin Deficiency
Proopiomelanocortin Deficiency 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2 6 0.010 None 1.000 1 2016 2016
CUI: C3838754
Disease: Congenital leptin deficiency
Congenital leptin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome; Congenital Abnormality 3 0.020 None 1.000 2 2000 2018
CUI: C1281440
Disease: Familial obesity
Familial obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 4 3 0.010 None 1.000 1 2003 2003
CUI: C0271885
Disease: Hypothalamic obesity
Hypothalamic obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2017 2017
CUI: C4024583
Disease: Increased adipose tissue
Increased adipose tissue 		phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
CUI: C0267990
Disease: Adult-onset obesity
Adult-onset obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2000 2000
CUI: C2937224
Disease: Constitutional obesity
Constitutional obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2003 2003
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY 		disease Disease or Syndrome 9 3 0.020 None 1.000 2 2018 2019
CUI: C4054476
Disease: Monogenic Obesity
Monogenic Obesity 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Sign or Symptom 11 1 0.100 None 1.000 27 1 2003 2019
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity 		phenotype Finding 11 4 0.100 None 0
CUI: C2675519
Disease: Hypoadiponectinemia
Hypoadiponectinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 16 17 0.010 None 1.000 1 2007 2007
CUI: C0855228
Disease: Eating disorder symptom
Eating disorder symptom 		phenotype Nutritional and Metabolic Diseases; Mental Disorders Mental or Behavioral Dysfunction 20 3 0.010 None 1.000 1 2015 2015
CUI: C1399793
Disease: skin fold (abnormality)
skin fold (abnormality) 		disease Anatomical Abnormality 21 8 0.010 None 1.000 1 1997 1997
CUI: C1112442
Disease: Female sexual dysfunction
Female sexual dysfunction 		disease Mental or Behavioral Dysfunction 22 3 0.010 None 1.000 1 2017 2017
CUI: C2931404
Disease: Albright's hereditary osteodystrophy
Albright's hereditary osteodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 22 0.010 None 1.000 1 2018 2018
CUI: C0001349
Disease: Acute-Phase Reaction
Acute-Phase Reaction 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 24 0.200 None 1.000 1 2012 2012
CUI: C1257963
Disease: Endogenous Hyperinsulinism
Endogenous Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 0.300 None 1.000 1 2012 2012
CUI: C1257964
Disease: Exogenous Hyperinsulinism
Exogenous Hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 0.300 None 1.000 1 2012 2012
CUI: C0746556
Disease: metabolic disturbance
metabolic disturbance 		disease Disease or Syndrome 29 4 0.010 None 1.000 1 2019 2019
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 30 19 0.100 None 1.000 4 1 1999 2017
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		disease Endocrine System Diseases Disease or Syndrome 30 11 0.010 None 1.000 1 2004 2004
CUI: C1257965
Disease: Compensatory Hyperinsulinemia
Compensatory Hyperinsulinemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 30 2 0.300 None 1.000 1 2012 2012
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 30 20 0.010 None 1.000 1 2018 2018