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.
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.040 None 1.000 4 2010 2018
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
disease Disease or Syndrome 741 81 0.020 None 1.000 2 2013 2018
CUI: C0265029
Disease: Portal vein obstruction
Portal vein obstruction
disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0687132
Disease: heavy drinking
heavy drinking
disease Mental or Behavioral Dysfunction 57 7 0.010 None 1.000 1 2014 2014
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: C0748168
Disease: Pulmonary Pathology
Pulmonary Pathology
disease Disease or Syndrome 29 0.010 None 1.000 1 2003 2003
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.040 None 1.000 4 2004 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2019 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2019 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2017 2017
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency
disease Cardiovascular Diseases Disease or Syndrome 60 5 0.010 None 1.000 1 2018 2018
CUI: C0221155
Disease: Systolic hypertension
Systolic hypertension
disease Cardiovascular Diseases Disease or Syndrome 19 1 0.010 None 1.000 1 2006 2006
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.010 None 1.000 1 2015 2015
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
Congenital atresia of extrahepatic bile duct
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 172 19 0.050 None 1.000 5 2017 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: C0266242
Disease: Congenital hypoplasia of bile duct
Congenital hypoplasia of bile duct
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 3 0.010 None 1.000 1 2004 2004
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
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
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: 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
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: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 155 4 0.010 None < 0.001 1 1985 1985
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