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 0.600 None 1.000 20 1 1978 2019
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.500 None 1.000 2 2010 2011
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.370 None 1.000 8 1995 2019
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 203 1423 0.360 None 1.000 7 1 1975 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.340 None 1.000 6 1991 2020
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 201 661 0.340 None 1.000 5 1 1983 2016
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.310 None 1.000 2 2014 2017
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 12 33 0.300 None 1.000 1 2003 2003
CUI: C0242216
Disease: Biliary calculi
Biliary calculi
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 48 31 0.300 None 1.000 1 1980 1980
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 1980 1980
CUI: C0519066
Disease: Acute Q fever
Acute Q fever
disease Infections Disease or Syndrome 10 3 0.300 None 1.000 1 2006 2006
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 0.300 None 1.000 1 2003 2003
CUI: C1443892
Disease: Chronic Q Fever
Chronic Q Fever
disease Infections Disease or Syndrome 22 9 0.300 None 1.000 1 2006 2006
CUI: C0034362
Disease: Q Fever
Q Fever
disease Infections Disease or Syndrome 26 0.300 None 1.000 1 2006 2006
CUI: C1959626
Disease: Mevalonic Aciduria
Mevalonic Aciduria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 29 0.300 None 1.000 1 2003 2003
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0342731
Disease: Deficiency of mevalonate kinase
Deficiency of mevalonate kinase
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 20 23 0.300 None 1.000 1 2003 2003
CUI: C2973787
Disease: Coxiella burnetii Infection
Coxiella burnetii Infection
disease Infections Disease or Syndrome 6 0.300 None 1.000 1 2006 2006
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.250 None 1.000 6 2 2004 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.210 None 1.000 2 2009 2011
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.200 None 1.000 13 1 2008 2020
LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1
phenotype Finding 63 0.200 None 1.000 3 2010 2014
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1
disease Finding 63 2 0.200 None 1.000 3 2010 2014
FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2
phenotype Finding 63 0.200 None 1.000 3 2010 2014
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 300 0.200 None 1.000 2 2008 2011