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: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		disease Digestive System Diseases Disease or Syndrome 435 51 0.010 None 1.000 1 2018 2018
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 0.010 None 1.000 1 2018 2018
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 117 12 0.010 None 1.000 1 2010 2010
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Congenital Abnormality 38 18 0.010 None 1.000 1 2010 2010
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 12 0.010 None 1.000 1 2001 2001
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2019 2019
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.010 None 1.000 1 2018 2018
CUI: C4551984
Disease: Arthrogryposis with renal dysfunction and cholestasis syndrome
Arthrogryposis with renal dysfunction and cholestasis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 0.020 None 1.000 2 2004 2014
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 16 13 0.020 None 1.000 2 2004 2014
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 2014 2014
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2019 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.010 None 1.000 1 2019 2019
CUI: C0741281
Disease: atrial fibrillation new onset
atrial fibrillation new onset 		disease Disease or Syndrome 18 0.010 None 1.000 1 2017 2017
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 10 1 0.020 None 1.000 2 2005 2016
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 184 32 0.050 None 1.000 5 2017 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 1.000 3 1998 2017
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2006 2006
CUI: C0008311
Disease: Cholangitis
Cholangitis 		disease Digestive System Diseases Disease or Syndrome 80 1 0.020 None 1.000 2 2017 2017
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease Digestive System Diseases Disease or Syndrome 252 90 0.010 None 1.000 1 2007 2007
CUI: C0008354
Disease: Cholera
Cholera 		disease Infections Disease or Syndrome 209 1 0.010 None 1.000 1 2017 2017
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.100 None 1.000 10 2001 2019
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 19 0.020 None 1.000 2 2004 2019
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		disease Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 100 24 0.050 None 1.000 5 2000 2009
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		disease Digestive System Diseases Disease or Syndrome 38 19 0.080 None 1.000 8 1994 2019
CUI: C0860204
Disease: Cholestatic liver disease
Cholestatic liver disease 		disease Digestive System Diseases Disease or Syndrome 58 0.010 None 1.000 1 2003 2003