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: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		disease Endocrine System Diseases Disease or Syndrome 46 8 0.100 None 1.000 21 1994 2020
CUI: C0393698
Disease: Cryptogenic Infantile Spasms
Cryptogenic Infantile Spasms 		disease Nervous System Diseases Disease or Syndrome 8 0.310 None 1.000 21 1980 2018
CUI: C0393699
Disease: Symptomatic Infantile Spasms
Symptomatic Infantile Spasms 		disease Nervous System Diseases Disease or Syndrome 8 0.310 None 1.000 21 1980 2020
CUI: C0546878
Disease: Nodding spasm
Nodding spasm 		disease Nervous System Diseases Disease or Syndrome 8 1 0.300 None 1.000 20 1980 2010
CUI: C0553558
Disease: Jackknife Seizures
Jackknife Seizures 		disease Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 20 1980 2010
CUI: C1527306
Disease: spasmus nutans
spasmus nutans 		disease Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 20 1980 2010
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype Nervous System Diseases Finding 152 7 0.300 None 1.000 20 1980 2010
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		group Neoplasms Neoplastic Process 491 20 0.100 None 0.950 20 1993 2019
CUI: C0032002
Disease: Pituitary Diseases
Pituitary Diseases 		group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 153 3 0.100 None 1.000 19 1988 2019
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.400 None 0.947 19 1982 2020
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: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor 		phenotype Neoplasms Neoplastic Process 267 3 0.100 None 0.944 18 1993 2019
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: 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: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease Neoplasms Neoplastic Process 344 186 0.100 None 0.929 14 1982 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: 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: 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: 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: C0032019
Disease: Pituitary Neoplasms
Pituitary Neoplasms 		group Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 131 1 0.100 None 0.846 13 1992 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.400 None 0.833 12 1996 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