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: 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 1980 1980
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 48 31 0.300 None 1.000 1 1980 1980
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality 11 20 0.010 None 1.000 1 2001 2001
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.600 None 1.000 20 1 1978 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.200 None 1.000 13 1 2008 2020
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 1.000 11 2003 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.190 None 1.000 10 4 2004 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.090 None 1.000 9 1 2008 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.080 None 1.000 8 2 2007 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.080 None 1.000 8 2002 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.370 None 1.000 8 1995 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.070 None 1.000 7 1 2008 2018
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 203 1423 0.360 None 1.000 7 1 1975 2016
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.060 None 1.000 6 2002 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.060 None 1.000 6 2004 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.250 None 1.000 6 2 2004 2019
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 42 34 0.060 None 1.000 6 1 1975 2016
CUI: C3267047
Disease: Autoimmune necrotizing myopathy
Autoimmune necrotizing myopathy 		disease Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 11 0.060 None 1.000 6 2017 2019
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 0.340 None 1.000 5 1 1983 2016
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.040 None 1.000 4 1994 2019
CUI: C4024608
Disease: Necrotizing myopathy
Necrotizing myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 8 0.040 None 1.000 4 2016 2019
CUI: C4302167
Disease: Autoimmune myopathy
Autoimmune myopathy 		disease Immune System Diseases Disease or Syndrome 4 0.040 None 0.750 4 2017 2018
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.030 None 0.667 3 2017 2019
CUI: C0154251
Disease: Lipid Metabolism Disorders
Lipid Metabolism Disorders 		group Nutritional and Metabolic Diseases Disease or Syndrome 95 10 0.030 None 1.000 3 2018 2019
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.030 None 1.000 3 2018 2019