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.
Bile acid synthesis defect, congenital, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1 7 0.700 5 7 2003 2015
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 83 22 0.300 1 2008 2008
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 166 36 0.300 1 2008 2008
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease Disease or Syndrome 91 2 0.300 strong 0
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 314 5 0.300 strong 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 moderate 0
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease Digestive System Diseases Disease or Syndrome 175 8 0.110 1.000 1 2003 2003
CUI: C0438237
Disease: Liver enzymes abnormal
Liver enzymes abnormal
phenotype Finding 117 0.100 0
CUI: C0438717
Disease: Transaminases increased
Transaminases increased
phenotype Finding 117 0.100 0
CUI: C0549613
Disease: Biliary tract abnormality
Biliary tract abnormality
phenotype Finding 20 0.100 0
CUI: C0877359
Disease: Increased liver function tests
Increased liver function tests
phenotype Finding 117 0.100 0
CUI: C4531021
Disease: Undergrowth
Undergrowth
phenotype Finding 528 0.100 0
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency
phenotype Disease or Syndrome 56 5 0.100 0
Subclinical abnormal liver function tests
phenotype Finding 117 0.100 0
CUI: C1848701
Disease: Elevated hepatic transaminases
Elevated hepatic transaminases
phenotype Finding 118 2 0.100 0
CUI: C1855106
Disease: Neonatal onset
Neonatal onset
phenotype Finding 25 0.100 0
CUI: C1859162
Disease: Neonatal cholestatic liver disease
Neonatal cholestatic liver disease
phenotype Finding 3 0.100 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Disease or Syndrome 542 0.100 0
CUI: C2936476
Disease: Chronic Liver Failure
Chronic Liver Failure
disease Digestive System Diseases Disease or Syndrome 11 0.100 0
CUI: C3714745
Disease: Malabsorption
Malabsorption
phenotype Finding 107 0.100 0
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding)
phenotype Finding 31 6 0.100 0
CUI: C0235996
Disease: Elevated liver enzymes
Elevated liver enzymes
phenotype Finding 117 0.100 0
CUI: C0005424
Disease: Biliary Tract Diseases
Biliary Tract Diseases
group Digestive System Diseases Disease or Syndrome 21 0.100 0
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
group Hemic and Lymphatic Diseases Disease or Syndrome 170 17 0.100 0
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis
disease Digestive System Diseases Disease or Syndrome 34 3 0.100 0