POMC, proopiomelanocortin, 5443

N. diseases: 873; N. variants: 39
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: C1527306
Disease: spasmus nutans
spasmus nutans 		disease Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 20 1980 2010
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 93 39 0.100 None 1.000 18 2003 2020
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome 		disease Endocrine System Diseases Disease or Syndrome 82 25 0.100 None 0.933 15 1992 2019
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease Neoplasms Neoplastic Process 344 186 0.100 None 0.929 14 1982 2019
CUI: C0032000
Disease: Pituitary Adenoma
Pituitary Adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 170 11 0.100 None 1.000 14 1998 2019
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.100 None 0.929 14 1982 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.400 None 1.000 13 1 2003 2020
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.590 None 1.000 13 1 2003 2020
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.100 None 0.923 13 1986 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.100 None 1.000 13 1 1992 2019
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		disease Digestive System Diseases; Endocrine System Diseases Disease or Syndrome 17 20 0.100 None 1.000 12 1991 2019
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		disease Digestive System Diseases Disease or Syndrome 429 52 0.100 None 0.909 11 2009 2020
CUI: C0948387
Disease: Secondary Adrenal Insufficiency
Secondary Adrenal Insufficiency 		disease Endocrine System Diseases Disease or Syndrome 20 1 0.200 None 1.000 11 2013 2020
CUI: C3887896
Disease: Primary Adrenal Insufficiency
Primary Adrenal Insufficiency 		disease Disease or Syndrome 27 2 0.100 None 1.000 11 1995 2019
CUI: C0342442
Disease: ACTH-dependent Cushing's syndrome
ACTH-dependent Cushing's syndrome 		disease Endocrine System Diseases Disease or Syndrome 3 0.100 None 1.000 10 1989 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.090 None 0.889 9 1996 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.090 None 0.889 9 2003 2018
CUI: C0271738
Disease: Hypocortisolism secondary to another disorder
Hypocortisolism secondary to another disorder 		disease Endocrine System Diseases Disease or Syndrome 13 0.090 None 1.000 9 1982 2020
CUI: C4285817
Disease: Cortisol deficiency
Cortisol deficiency 		disease Disease or Syndrome 2 0.090 None 0.889 9 1991 2019
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.080 None 1.000 8 2017 2020
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 84 6 0.080 None 1.000 8 1992 2017
CUI: C0020595
Disease: Hypoaldosteronism
Hypoaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 18 0.080 None 1.000 8 1995 2018
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 203 49 0.080 None 1.000 8 1 1999 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.330 None 1.000 8 1974 2019
CUI: C0342494
Disease: Adrenocortical hyperplasia
Adrenocortical hyperplasia 		disease Endocrine System Diseases Disease or Syndrome 25 0.080 None 1.000 8 1985 2010