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: 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: 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: 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: 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: 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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.170 None 1.000 8 4 2007 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: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones
disease Digestive System Diseases Disease or Syndrome 51 12 0.070 None 1.000 7 4 2009 2018
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.050 None 0.800 5 2000 2014
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.050 None 0.800 5 2000 2014
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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.420 None 1.000 3 1 2000 2010
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: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.030 None 1.000 3 2012 2019
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.020 None 1.000 2 2010 2015
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2010 2015
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.020 None 0.500 2 2013 2015
Gerstmann-Straussler-Scheinker Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome 56 39 0.020 None 1.000 2 2 2010 2019
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses
disease Musculoskeletal Diseases Disease or Syndrome 44 11 0.020 None 1.000 2 2 2010 2019
CUI: C0302314
Disease: Xanthoma
Xanthoma
disease Nutritional and Metabolic Diseases Disease or Syndrome 29 4 0.020 None 1.000 2 1 2014 2017
Familial hypercholesterolemia - heterozygous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 42 34 0.020 None 1.000 2 2 2009 2018
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.020 None 1.000 2 1 2004 2009
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 201 661 0.020 None 1.000 2 2009 2019
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.010 None 1.000 1 2014 2014