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: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		phenotype Pathologic Function 21 0.100 None 0
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: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		disease Cardiovascular Diseases Disease or Syndrome 23 38 0.100 None 0
CUI: C0549399
Disease: Low density lipoprotein increased
Low density lipoprotein increased 		phenotype Nutritional and Metabolic Diseases Finding 23 318 0.100 None 0
CUI: C0598784
Disease: Dyslipoproteinemias
Dyslipoproteinemias 		phenotype Nutritional and Metabolic Diseases Pathologic Function 24 0.300 None 1.000 1 2009 2009
CUI: C1704417
Disease: Hyperlipoproteinemia Type IIb
Hyperlipoproteinemia Type IIb 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 25 16 0.100 None 0
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
CUI: C0302314
Disease: Xanthoma
Xanthoma 		disease Nutritional and Metabolic Diseases Disease or Syndrome 29 4 0.330 None 1.000 4 2001 2019
CUI: C0018808
Disease: Heart murmur
Heart murmur 		phenotype Pathological Conditions, Signs and Symptoms Finding 31 10 0.100 None 0
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.030 None 1.000 3 2014 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: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 37 8 0.100 None 0
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 29 0.010 None 1.000 1 2013 2013
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 40 1 0.100 None 0
CUI: C0016977
Disease: Gall Bladder Diseases
Gall Bladder Diseases 		group Digestive System Diseases Disease or Syndrome 42 4 0.010 None 1.000 1 2016 2016
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 42 34 0.010 None 1.000 1 1 2018 2018
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		disease Musculoskeletal Diseases Disease or Syndrome 44 11 0.010 None 1.000 1 1 2012 2012
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: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 48 124 0.010 None 1.000 1 2016 2016
CUI: C0020476
Disease: Hyperlipoproteinemias
Hyperlipoproteinemias 		disease Nutritional and Metabolic Diseases Disease or Syndrome 49 7 0.200 None 1.000 1 2005 2005
CUI: C0730362
Disease: Disorder of macula of retina
Disorder of macula of retina 		group Eye Diseases Disease or Syndrome 49 24 0.010 None 1.000 1 2013 2013
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		disease Digestive System Diseases Disease or Syndrome 51 12 0.020 None 1.000 2 1 2013 2017
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome 56 39 0.010 None 1.000 1 1 2012 2012
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 59 5 0.300 strong 1.000 1 2016 2016
CUI: C1563937
Disease: Atherogenesis
Atherogenesis 		phenotype Cardiovascular Diseases Pathologic Function 59 0.300 None 1.000 1 2001 2001