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: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 74 20 0.300 None 1.000 1 1971 1971
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 None 1.000 1 1972 1972
CUI: C0751119
Disease: Epilepsy, Tonic-Clonic, Symptomatic
Epilepsy, Tonic-Clonic, Symptomatic 		disease Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 1974 1974
CUI: C0014549
Disease: Tonic-Clonic Epilepsy
Tonic-Clonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 19 1 0.300 None 1.000 1 1974 1974
CUI: C0751117
Disease: Cryptogenic Tonic-Clonic Epilepsy
Cryptogenic Tonic-Clonic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 1974 1974
CUI: C0751118
Disease: Epilepsy, Tonic-Clonic, Familial
Epilepsy, Tonic-Clonic, Familial 		disease Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 1974 1974
CUI: C0032787
Disease: Postoperative Complications
Postoperative Complications 		group Pathological Conditions, Signs and Symptoms Pathologic Function 5 0.300 None 1.000 1 1974 1974
CUI: C0033687
Disease: Proteinuria
Proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.300 None 1.000 1 1974 1974
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 103 68 0.010 None 1.000 1 1976 1976
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.010 None 1.000 1 1976 1976
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		disease Nervous System Diseases Disease or Syndrome 156 32 0.010 None 1.000 1 1976 1976
CUI: C0010692
Disease: Cystitis
Cystitis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 149 0.300 None 1.000 1 1976 1976
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 0.020 None 1.000 2 1979 1979
CUI: C0022672
Disease: Acute Kidney Tubular Necrosis
Acute Kidney Tubular Necrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 53 0.300 None 1.000 2 1973 1980
CUI: C1565321
Disease: Cholera Infantum
Cholera Infantum 		disease Digestive System Diseases Disease or Syndrome 12 0.300 None 1.000 1 1980 1980
CUI: C3714636
Disease: Pneumonitis
Pneumonitis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 697 13 0.300 None 1.000 1 1980 1980
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		group Immune System Diseases Disease or Syndrome 451 116 0.300 None 1.000 1 1980 1980
CUI: C0017178
Disease: Gastrointestinal Diseases
Gastrointestinal Diseases 		group Digestive System Diseases Disease or Syndrome 144 14 0.300 None 1.000 1 1980 1980
CUI: C0559031
Disease: Functional Gastrointestinal Disorders
Functional Gastrointestinal Disorders 		disease Digestive System Diseases Disease or Syndrome 33 0.300 None 1.000 1 1980 1980
CUI: C0028961
Disease: Oliguria
Oliguria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 24 0.300 None 1.000 1 1980 1980
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 122 78 0.300 None 1.000 1 1980 1980
CUI: C0887898
Disease: Experimental Lung Inflammation
Experimental Lung Inflammation 		disease Infections; Respiratory Tract Diseases Experimental Model of Disease 54 0.300 None 1.000 1 1980 1980
CUI: C0032300
Disease: Lobar Pneumonia
Lobar Pneumonia 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 140 2 0.300 None 1.000 1 1980 1980
CUI: C0268292
Disease: Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 11 75 0.010 None 1.000 1 1980 1980
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 10 16 0.010 None 1.000 1 1980 1980