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: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C1843392
Disease: Death in childhood
Death in childhood 		phenotype Finding 25 2 0.100 None 0
CUI: C0554103
Disease: Intestinal malabsorption of fat
Intestinal malabsorption of fat 		phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Pathologic Function 5 0.100 None 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		phenotype Finding 67 6 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised 		phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding 55 0.100 None 0
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 32 1 0.100 None 0
CUI: C3554241
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 		disease Disease or Syndrome 2 16 0.100 None 0 3
CUI: C4025805
Disease: Intermittent jaundice
Intermittent jaundice 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 3 0.100 None 0
CUI: C4021883
Disease: Abnormal liver function tests during pregnancy
Abnormal liver function tests during pregnancy 		disease Finding 3 1 0.100 None 0 1
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 294 116 0.010 None < 0.001 1 2012 2012
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		disease Digestive System Diseases Disease or Syndrome 264 58 0.010 None < 0.001 1 2004 2004
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.040 None 0.750 4 2 2003 2014
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		disease Digestive System Diseases Disease or Syndrome 156 62 0.040 None 0.750 4 2 2006 2019
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110 0.180 None 0.875 8 1 2004 2018
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29 0.100 None 0.889 18 2 2007 2020
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.090 None 0.889 9 1 2004 2018
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.100 None 0.909 11 2007 2019
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		disease Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 100 24 0.400 None 0.958 24 9 2003 2019
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.600 None 0.984 62 1 2001 2019
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 31 10 0.500 strong 1.000 61 2 1997 2020