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: C0023772
Disease: Lipid Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2001 2001
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.030 None 1.000 3 1 2003 2009
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.460 strong 1.000 6 2 2004 2019
CUI: C0155733
Disease: Atherosclerosis of aorta
Atherosclerosis of aorta 		phenotype Cardiovascular Diseases Disease or Syndrome 37 1 0.010 None < 0.001 1 2004 2004
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: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2 2004 2004
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 62 15 0.010 None 1.000 1 2 2004 2004
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.310 None 1.000 2 2005 2009
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 385 243 0.010 None 1.000 1 2005 2005
CUI: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias 		disease Nutritional and Metabolic Diseases Disease or Syndrome 49 7 0.200 None 1.000 1 2005 2005
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.200 None 1.000 1 2006 2006
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease Digestive System Diseases Disease or Syndrome 252 90 0.100 None 1.000 14 3 2007 2019
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		disease Digestive System Diseases Disease or Syndrome 156 62 0.060 None 1.000 6 2 2007 2019
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 48 31 0.010 None 1.000 1 1 2008 2008
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.420 None 1.000 4 2 2009 2018
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 2 3 2009 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 2 2 2009 2012
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1058 222 0.020 None 1.000 2 2009 2018
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 2 2 2009 2016
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.300 None 1.000 1 2009 2009
CUI: C0598784
Disease: Dyslipoproteinemias
Dyslipoproteinemias 		phenotype Nutritional and Metabolic Diseases Pathologic Function 24 0.300 None 1.000 1 2009 2009
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 203 1423 0.330 strong 1.000 4 2010 2018
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 0.030 None 1.000 3 2010 2018
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: C0267971
Disease: Storage disease
Storage disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 28 1 0.010 None 1.000 1 2010 2010