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: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		disease Skin and Connective Tissue Diseases Disease or Syndrome 64 11 0.100 None 0
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		disease Musculoskeletal Diseases Disease or Syndrome 82 1 0.100 None 0
CUI: C4024583
Disease: Increased adipose tissue
Increased adipose tissue 		phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
CUI: C0241240
Disease: Tall stature
Tall stature 		phenotype Finding 79 14 0.100 None 0
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity 		phenotype Finding 11 4 0.100 None 0
CUI: C1399793
Disease: skin fold (abnormality)
skin fold (abnormality) 		disease Anatomical Abnormality 21 8 0.010 None 1.000 1 1997 1997
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: 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: 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: C0342541
Disease: Precocious pubarche
Precocious pubarche 		disease Endocrine System Diseases Disease or Syndrome 30 11 0.010 None 1.000 1 2004 2004
CUI: C0042963
Disease: Vomiting
Vomiting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 303 23 0.010 None 1.000 1 2004 2004
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 108 24 0.010 None 1.000 1 2004 2004
CUI: C0006625
Disease: Cachexia
Cachexia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 273 11 0.040 None 1.000 4 1 2003 2005
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 199 39 0.300 None 1.000 1 2005 2005
CUI: C0041948
Disease: Uremia
Uremia 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 110 2 0.010 None 1.000 1 2005 2005
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 1 2007 2007
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 93 39 0.010 None 1.000 1 1 2007 2007
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: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 1 2007 2007
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.010 None 1.000 1 1 2007 2007
CUI: C1391732
Disease: Cancer cachexia
Cancer cachexia 		disease Neoplastic Process 110 1 0.020 None 1.000 2 1 2005 2008
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		phenotype Nutritional and Metabolic Diseases Pathologic Function 162 53 0.300 None 1.000 1 2008 2008
CUI: C0920563
Disease: Insulin Sensitivity
Insulin Sensitivity 		phenotype Nutritional and Metabolic Diseases Pathologic Function 62 0.300 None 1.000 1 2008 2008
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2009 2009