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: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 153 1189 0.700 strong 0.965 117 16 1988 2018
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 13 20 0.700 0.914 81 15 1979 2018
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
Hyperlipoproteinemia Type IIb
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 23 3 0.700 0.906 35 3 1989 2011
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 442 24 0.600 1.000 17 2001 2015
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 912 760 0.500 0.987 79 2 1986 2017
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 239 63 0.500 0.943 55 1 1987 2016
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 568 41 0.500 1.000 19 1996 2015
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 231 26 0.500 1.000 12 1988 2014
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 152 182 0.400 0.964 111 3 1989 2018
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
group Nutritional and Metabolic Diseases Disease or Syndrome 215 48 0.400 1.000 21 2 1995 2016
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 786 197 0.400 1.000 21 1 1996 2015
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 156 62 0.390 1.000 9 1995 2017
Hypobetalipoproteinemia, Familial, Apolipoprotein B
disease Nutritional and Metabolic Diseases Disease or Syndrome 1 0.310 1.000 4 1987 1995
Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B
disease Disease or Syndrome 1 2 0.300 4 2 1989 2011
CUI: C1706412
Disease: Lipidemias
Lipidemias
phenotype Nutritional and Metabolic Diseases Finding 18 0.300 1 2008 2008
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency
disease Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 12 23 0.300 1 2008 2008
CUI: C0598784
Disease: Dyslipoproteinemias
Dyslipoproteinemias
group Nutritional and Metabolic Diseases Pathologic Function 19 0.300 1 2008 2008
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 257 225 0.300 1 2002 2002
Familial hypercholesterolemia - homozygous
disease Disease or Syndrome 7 0.300 0
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.300 0
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 181 8 0.230 1.000 4 1996 2009
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 980 861 0.200 0.974 79 2 1986 2016
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 22 8 0.200 0.969 72 4 1987 2016
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Cardiovascular Diseases Disease or Syndrome 965 454 0.200 0.826 26 1 1986 2015
Hypobetalipoproteinemia, Familial, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 7 0.200 2 1996 1999