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: C0043208
Disease: Wolman Disease
Wolman Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 10 0.700 0.979 52 10 1984 2018
CUI: C0008384
Disease: Cholesterol Ester Storage Disease
Cholesterol Ester Storage Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 3 0.700 1.000 24 3 1994 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 980 861 0.430 1.000 8 3 2003 2018
Acid cholesteryl ester hydrolase deficiency, type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.350 1.000 5 1998 2018
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 759 189 0.320 1.000 3 2003 2012
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 153 1189 0.310 strong 1.000 1 2017 2017
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease Disease or Syndrome 91 2 0.300 strong 8 1994 2018
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases; Immune System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 102 2 0.300 strong 1 2003 2003
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 12 133 0.300 1 2010 2010
CUI: C0268247
Disease: Niemann-Pick Disease, Type D
Niemann-Pick Disease, Type D
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 73 0.300 1 2010 2010
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 76 77 0.300 1 2010 2010
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia
phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 121 1 0.300 limited 0
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 314 5 0.300 strong 0
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
disease Cardiovascular Diseases Disease or Syndrome 912 760 0.120 1.000 4 3 2003 2012
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 1086 121 0.120 1.000 2 1986 2006
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
disease Cardiovascular Diseases Disease or Syndrome 965 454 0.110 < 0.001 3 2 2014 2017
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease Digestive System Diseases Disease or Syndrome 544 31 0.110 1.000 1 2016 2016
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
phenotype Sign or Symptom 57 5 0.110 1.000 1 1 1995 1995
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 239 63 0.110 1.000 1 1 2014 2014
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
phenotype Laboratory Procedure 109 201 0.100 1 1 2017 2017
CUI: C0750879
Disease: Eosinophil count result
Eosinophil count result
phenotype Laboratory or Test Result 200 419 0.100 1 1 2017 2017
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay
phenotype Laboratory Procedure 48 142 0.100 1 1 2016 2016
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 200 419 0.100 1 1 2017 2017
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 58 64 0.100 1 1 2017 2017
CUI: C0349782
Disease: Ischemic cardiomyopathy
Ischemic cardiomyopathy
disease Disease or Syndrome 115 65 0.100 1 1 2017 2017