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 0.950 31 10 2000 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 5 4 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 0.420 0.500 4 2000 2015
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 912 760 0.410 1.000 3 2 2009 2015
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1133 131 0.350 1.000 6 2000 2014
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 153 1189 0.320 strong 1.000 2 1 2010 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.310 1.000 2 2012 2015
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 231 26 0.310 1.000 2 2005 2010
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease Disease or Syndrome 91 2 0.300 limited 3 2006 2018
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 759 189 0.300 2 2000 2001
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
group Nutritional and Metabolic Diseases Disease or Syndrome 215 48 0.300 1 2009 2009
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Digestive System Diseases Experimental Model of Disease 800 0.300 1 2015 2015
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 6 0.300 1 2001 2001
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.300 1 2012 2012
CUI: C0598784
Disease: Dyslipoproteinemias
Dyslipoproteinemias
group Nutritional and Metabolic Diseases Pathologic Function 19 0.300 1 2009 2009
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 17 7 0.300 1 2001 2001
CUI: C1563937
Disease: Atherogenesis
Atherogenesis
phenotype Cardiovascular Diseases Pathologic Function 54 0.300 1 2001 2001
CUI: C0302314
Disease: Xanthoma
Xanthoma
disease Nutritional and Metabolic Diseases Disease or Syndrome 20 3 0.300 1 2001 2001
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 0
Familial hypercholesterolemia - homozygous
disease Disease or Syndrome 7 0.300 0
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1086 121 0.250 1.000 6 2000 2014
CUI: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias
group Nutritional and Metabolic Diseases Disease or Syndrome 42 2 0.200 1 2005 2005
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 239 63 0.140 1.000 4 1 2004 2009
CUI: C0155733
Disease: Atherosclerosis of aorta
Atherosclerosis of aorta
disease Disease or Syndrome 30 0.110 < 0.001 1 2004 2004