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: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.700 None 1.000 12 1 1993 2020
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.650 None 1.000 8 1998 2018
CUI: C4751204
Disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 0.500 limited 1.000 2 2002 2016
CUI: C3151147
Disease: Bile Acid Synthesis Defect, Congenital, 3
Bile Acid Synthesis Defect, Congenital, 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.300 limited 1.000 1 1998 1998
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.200 None 1.000 1 2004 2004
CUI: C0001306
Disease: Acute alcoholic liver disease
Acute alcoholic liver disease 		disease Digestive System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 35 0.200 None 1.000 1 2017 2017
CUI: C0005398
Disease: Cholestasis, Extrahepatic
Cholestasis, Extrahepatic 		disease Digestive System Diseases Disease or Syndrome 87 0.200 None 1.000 1 2018 2018
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		disease Digestive System Diseases Disease or Syndrome 51 12 0.140 None 1.000 4 2005 2010
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.130 None 1.000 3 2015 2018
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.120 None 1.000 2 2004 2014
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2012 2012
CUI: C1837256
Disease: Macrovesicular hepatic steatosis
Macrovesicular hepatic steatosis 		phenotype Digestive System Diseases Finding 9 0.100 None 0
CUI: C4025020
Disease: Acute hepatic steatosis
Acute hepatic steatosis 		disease Digestive System Diseases Disease or Syndrome 2 0.100 None 0
CUI: C4024686
Disease: Abnormality of vitamin A metabolism
Abnormality of vitamin A metabolism 		phenotype Finding 1 0.100 None 0
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.100 None 0
CUI: C4022034
Disease: Abnormality of vitamin E metabolism
Abnormality of vitamin E metabolism 		phenotype Finding 1 0.100 None 0
CUI: C0549399
Disease: Low density lipoprotein increased
Low density lipoprotein increased 		phenotype Nutritional and Metabolic Diseases Finding 23 318 0.100 None 0
CUI: C1849618
Disease: Accelerated atherosclerosis
Accelerated atherosclerosis 		phenotype Cardiovascular Diseases Finding 7 0.100 None 0
CUI: C0019158
Disease: Hepatitis
Hepatitis 		group Digestive System Diseases Disease or Syndrome 656 42 0.100 None 0
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.050 None 1.000 5 2009 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.050 None 1.000 5 2005 2018
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease Digestive System Diseases Disease or Syndrome 252 90 0.050 None 1.000 5 3 2008 2018
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.040 None 1.000 4 2 2007 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.040 None 1.000 4 1 2004 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.030 None 1.000 3 2017 2019