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: 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: C4024583
Disease: Increased adipose tissue
Increased adipose tissue
phenotype Nutritional and Metabolic Diseases Finding 5 0.100 None 0
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 1.000 None 0.961 283 53 1997 2020
CUI: C1399793
Disease: skin fold (abnormality)
skin fold (abnormality)
disease Anatomical Abnormality 21 8 0.010 None 1.000 1 1997 1997
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 203 49 0.400 None 0.977 43 6 1999 2019
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.100 None 0.909 11 2 1999 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.100 None 0.909 11 2 1999 2019
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.120 None 1.000 6 1 1999 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: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
disease Mental Disorders Mental or Behavioral Dysfunction 202 72 0.040 None 1.000 4 1999 2019
CUI: C2267227
Disease: Bulimia Nervosa
Bulimia Nervosa
disease Mental Disorders Mental or Behavioral Dysfunction 71 24 0.030 None 1.000 3 1 1999 2015
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
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
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.200 None 0.963 27 1 2001 2019
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 191 67 0.100 None 0.957 23 1 2001 2019
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.040 None 1.000 4 2001 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: C0006370
Disease: Bulimia
Bulimia
disease Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 76 30 0.090 None 0.667 9 2 2003 2019
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: C0020175
Disease: Hunger
Hunger
phenotype Behavior and Behavior Mechanisms Sign or Symptom 70 12 0.040 None 1.000 4 2003 2019
CUI: C0003123
Disease: Anorexia
Anorexia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 242 10 0.030 None 1.000 3 1 2003 2018