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: C0342907
Disease: Sitosterolemia
Sitosterolemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality 11 20 1.000 None 1.000 29 14 2000 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.470 strong 1.000 8 2 2004 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.450 None 1.000 9 5 2000 2018
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 48 31 0.420 None 1.000 6 2 2007 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.420 None 1.000 3 1 2000 2010
CUI: C1969115
Disease: GALLBLADDER DISEASE 4
GALLBLADDER DISEASE 4 		disease Digestive System Diseases Disease or Syndrome 1 1 0.400 None 0 1
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 203 1423 0.320 strong 1.000 3 2009 2019
CUI: C0009438
Disease: Common Bile Duct Calculi
Common Bile Duct Calculi 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 4 0.300 None 1.000 1 2007 2007
CUI: C2749759
Disease: Macrothrombocytopenia-Stomatocytosis, Mediterranean
Macrothrombocytopenia-Stomatocytosis, Mediterranean 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2000 2000
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 59 5 0.300 strong 1.000 1 2017 2017
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		disease Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 100 24 0.300 limited 1.000 1 2015 2015
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
Familial hypercholesterolemia - homozygous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 23 72 0.300 None 1.000 1 2010 2010
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease Digestive System Diseases Disease or Syndrome 252 90 0.200 None 0.955 22 13 2007 2019
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		disease Digestive System Diseases Disease or Syndrome 156 62 0.200 None 1.000 11 10 2007 2014
CUI: C2750440
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 		disease Finding 63 2 0.200 None 1.000 2 2013 2014
CUI: C2750441
Disease: LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 		phenotype Finding 63 0.200 None 1.000 2 2013 2014
CUI: C3150651
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 		phenotype Finding 63 0.200 None 1.000 2 2013 2014
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 2004 2004
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.200 None 1.000 1 2006 2006
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.170 None 1.000 8 4 2007 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.130 None 1.000 4 3 2009 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.110 None 1.000 1 2010 2010
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.110 None 1.000 1 2019 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 18 12 2009 2019