Source: CURATED ×
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: C0342907
Disease: Sitosterolemia
Sitosterolemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality 2 18 1.000 None 1.000 5 13 2000 2019
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 39 10 0.470 strong 1.000 1 2004 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 65 627 0.450 None 1.000 1 2 2000 2018
CUI: C0242216
Disease: Biliary calculi
Biliary calculi
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 4 31 0.420 None 1.000 1 2 2007 2019
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 65 0.420 None 1.000 1 2000 2010
CUI: C1969115
Disease: GALLBLADDER DISEASE 4
GALLBLADDER DISEASE 4
disease Digestive System Diseases Disease or Syndrome 1 1 0.400 None 0 1
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 18 1368 0.320 strong 1.000 1 2009 2019
Familial hypercholesterolemia - homozygous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 58 0.300 None 1.000 1 2010 2010
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy
disease Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 8 0.300 limited 1.000 1 2015 2015
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders
group Hemic and Lymphatic Diseases Disease or Syndrome 16 1 0.300 strong 1.000 1 2017 2017
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 774 0.300 None 1.000 1 2014 2014
CUI: C0009438
Disease: Common Bile Duct Calculi
Common Bile Duct Calculi
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 4 0.300 None 1.000 1 2007 2007
Macrothrombocytopenia-Stomatocytosis, Mediterranean
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.300 None 1.000 1 2000 2000