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: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.010 None 1.000 1 2015 2015
CUI: C0037284
Disease: Skin lesion
Skin lesion 		group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.010 None 1.000 1 2011 2011
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2017 2017
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 359 0.010 None 1.000 1 2018 2018
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		group Infections Disease or Syndrome 1471 42 0.010 None 1.000 1 2012 2012
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		group Infections Disease or Syndrome 384 72 0.010 None 1.000 1 2011 2011
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 570 1 0.010 None 1.000 1 2018 2018
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.010 None 1.000 1 2018 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 83 0.010 None 1.000 1 2017 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.010 None 1.000 1 2018 2018
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 49 205 0.010 None 1.000 1 2017 2017
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 53 0.010 None < 0.001 1 2019 2019
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 64 12 0.010 None 1.000 1 2018 2018
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.010 None 1.000 1 2017 2017
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 467 14 0.010 None 1.000 1 2019 2019
CUI: C0393485
Disease: Neurosarcoidosis
Neurosarcoidosis 		disease Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 11 0.010 None 1.000 1 2018 2018
CUI: C0431420
Disease: Vein of Galen aneurysm
Vein of Galen aneurysm 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0949664
Disease: Tauopathies
Tauopathies 		group Nervous System Diseases Disease or Syndrome 245 43 0.010 None 1.000 1 2016 2016
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 18 38 0.010 None 1.000 1 2013 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2018 2018
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.010 None 1.000 1 2018 2018
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
Glucocorticoid Receptor Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 104 12 0.010 None 1.000 1 2008 2008
CUI: C2985524
Disease: Rhabdoid tumor predisposition syndrome
Rhabdoid tumor predisposition syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 3 0.010 None 1.000 1 2014 2014
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 434 17 0.010 None 1.000 1 2018 2018
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2015 2015