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: 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: 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: C0523744
Disease: Lipids measurement
Lipids measurement 		group Laboratory Procedure 27 53 0.100 None 1.000 2 2 2009 2013
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 2015 2015
CUI: C0302314
Disease: Xanthoma
Xanthoma 		disease Nutritional and Metabolic Diseases Disease or Syndrome 29 4 0.020 None 1.000 2 1 2014 2017
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 2012 2019
CUI: C0155733
Disease: Atherosclerosis of aorta
Atherosclerosis of aorta 		phenotype Cardiovascular Diseases Disease or Syndrome 37 1 0.010 None 1.000 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: C0206160
Disease: Reticulocytosis
Reticulocytosis 		phenotype Pathological Conditions, Signs and Symptoms Finding 40 1 0.100 None 0
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 0.020 None 1.000 2 2 2009 2018
CUI: C0016977
Disease: Gall Bladder Diseases
Gall Bladder Diseases 		group Digestive System Diseases Disease or Syndrome 42 4 0.010 None 1.000 1 3 2016 2016
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		disease Musculoskeletal Diseases Disease or Syndrome 44 11 0.020 None 1.000 2 2 2010 2019
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 48 31 0.420 None 1.000 6 2 2007 2019
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: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		disease Digestive System Diseases Disease or Syndrome 51 12 0.070 None 1.000 7 4 2009 2018
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		disease Digestive System Diseases Disease or Syndrome 55 3 0.010 None 1.000 1 2019 2019
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 0.020 None 1.000 2 2 2010 2019
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 2017 2017
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 62 15 0.010 None 1.000 1 1 2004 2004
CUI: C2750440
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 		disease Finding 63 2 0.200 None 1.000 2 2013 2014
CUI: C2750441
Disease: LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 		phenotype Finding 63 0.200 None 1.000 2 2013 2014
CUI: C3150651
Disease: FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 		phenotype Finding 63 0.200 None 1.000 2 2013 2014