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 5 27 0.800 1.000 33 20 1974 2018
Macrothrombocytopenia-Stomatocytosis, Mediterranean
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 12 0.500 3 9 2000 2004
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 314 5 0.500 strong 1 2006 2006
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 980 861 0.450 0.800 9 4 2000 2018
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 153 1189 0.310 strong 1.000 3 2 2009 2015
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 759 189 0.310 1.000 2 1 2000 2005
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease Disease or Syndrome 91 2 0.300 limited 2 2006 2016
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Digestive System Diseases Experimental Model of Disease 800 0.300 1 2015 2015
CUI: C1969115
Disease: GALLBLADDER DISEASE 4
GALLBLADDER DISEASE 4
disease Digestive System Diseases Disease or Syndrome 1 0.300 0
Familial hypercholesterolemia - homozygous
disease Disease or Syndrome 7 0.300 0
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
disease Digestive System Diseases Disease or Syndrome 135 65 0.200 1.000 18 9 2007 2017
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
disease Digestive System Diseases Disease or Syndrome 81 58 0.200 1.000 12 9 2007 2017
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 239 63 0.160 1.000 6 1 2004 2013
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 912 760 0.110 1.000 2 3 2009 2011
CUI: C0155733
Disease: Atherosclerosis of aorta
Atherosclerosis of aorta
disease Disease or Syndrome 30 0.110 < 0.001 1 2004 2004
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 282 676 0.100 11 10 2009 2017
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 306 814 0.100 7 9 2009 2017
CUI: C0523744
Disease: Lipids measurement
Lipids measurement
group Laboratory Procedure 22 52 0.100 2 2 2009 2013
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplastic Process 2475 735 0.100 1 1 2013 2013
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Cardiovascular Diseases Disease or Syndrome 965 454 0.100 1 1 2017 2017
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 58 64 0.100 1 1 2017 2017
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
phenotype Laboratory Procedure 50 245 0.100 1 1 2017 2017
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 335 923 0.100 1 1 2012 2012
CUI: C0349782
Disease: Ischemic cardiomyopathy
Ischemic cardiomyopathy
disease Disease or Syndrome 115 65 0.100 1 1 2017 2017
CUI: C1848486
Disease: Premature arteriosclerosis
Premature arteriosclerosis
disease Disease or Syndrome 9 0.100 0