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: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 489 123 0.700 strong 0.966 119 12 2003 2020
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
disease Nutritional and Metabolic Diseases Disease or Syndrome 1 13 0.700 strong 1.000 21 13 2003 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2004 2018
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.400 None 0.984 63 2 2005 2020
Familial hypercholesterolemia - heterozygous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 42 34 0.100 None 1.000 24 1 2005 2020
CUI: C1332347
Disease: Atypical Ductal Breast Hyperplasia
Atypical Ductal Breast Hyperplasia
disease Neoplasms Neoplastic Process 80 17 0.100 None 0.938 16 4 2005 2019
CUI: C0342880
Disease: Polygenic hypercholesterolemia
Polygenic hypercholesterolemia
disease Disease or Syndrome 10 3 0.030 None 1.000 3 1 2005 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.100 None 0.992 118 4 2006 2020
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.500 None 0.987 76 3 2006 2020
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.100 None 1.000 75 4 2006 2020
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.200 None 0.986 73 6 2006 2020
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
group Nutritional and Metabolic Diseases Disease or Syndrome 471 184 0.100 None 1.000 59 4 2006 2020
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.200 None 1.000 32 2006 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.200 None 0.870 23 3 2006 2020
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 113 22 0.200 None 1.000 16 12 2006 2019
CUI: C1862596
Disease: Familial hypobetalipoproteinemia
Familial hypobetalipoproteinemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 12 24 0.090 None 0.889 9 3 2006 2017
CUI: C3888506
Disease: LDLR mutation
LDLR mutation
disease Congenital Abnormality 10 21 0.040 None 1.000 4 6 2006 2014
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 219 79 0.030 None 0.667 3 3 2006 2018
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis
disease Nutritional and Metabolic Diseases Disease or Syndrome 20 10 0.020 None 1.000 2 4 2006 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.200 None 0.963 107 5 2007 2020
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.100 None 0.889 18 1 2007 2020
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1159 704 0.100 None 1.000 10 3 2007 2020
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 11 0.050 None 0.800 5 1 2007 2018
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
disease Disease or Syndrome 741 81 0.020 None 1.000 2 2007 2018
CUI: C0030499
Disease: Parasitic Diseases
Parasitic Diseases
group Infections Disease or Syndrome 164 2 0.010 None 1.000 1 2007 2007