ATP8B1, ATPase phospholipid transporting 8B1, 5205

N. diseases: 70; N. variants: 38
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: C3549845
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		disease Disease or Syndrome 1 4 0.600 None 1.000 4 4 2005 2016
CUI: C0854525
Disease: Post surgical diarrhea
Post surgical diarrhea 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2016 2016
CUI: C4025019
Disease: Intrahepatic cholestasis with episodic jaundice
Intrahepatic cholestasis with episodic jaundice 		disease Digestive System Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4021882
Disease: Increased serum bile acid concentration during pregnancy
Increased serum bile acid concentration during pregnancy 		phenotype Finding 2 0.100 None 0
CUI: C4551899
Disease: Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1 		disease Digestive System Diseases Disease or Syndrome 3 9 0.700 None 1.000 5 9 1998 2016
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		disease Digestive System Diseases Disease or Syndrome 3 28 0.010 None 1.000 1 2010 2010
CUI: C4021883
Disease: Abnormal liver function tests during pregnancy
Abnormal liver function tests during pregnancy 		disease Finding 3 1 0.100 None 0
CUI: C4025805
Disease: Intermittent jaundice
Intermittent jaundice 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 3 0.100 None 0
CUI: C3489789
Disease: Cholestasis, Progressive Familial Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic, 2 		disease Digestive System Diseases Disease or Syndrome 4 25 0.040 None 0.750 4 1 2009 2012
CUI: C3489728
Disease: Familial intrahepatic cholestasis of pregnancy
Familial intrahepatic cholestasis of pregnancy 		disease Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 4 0.300 None 0
CUI: C0742395
Disease: Cholestasis, chronic
Cholestasis, chronic 		disease Disease or Syndrome 5 0.010 None 1.000 1 2016 2016
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: C4023004
Disease: Increased serum bile acid concentration
Increased serum bile acid concentration 		phenotype Finding 5 0.100 None 0
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 10 1 0.100 None 0.929 14 1997 2015
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis 		disease Digestive System Diseases Disease or Syndrome 17 16 0.010 None < 0.001 1 2013 2013
CUI: C0027613
Disease: Neonatal hepatitis
Neonatal hepatitis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Infections Disease or Syndrome 21 2 0.010 None 1.000 1 1997 1997
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 33 5 1996 2018
CUI: C1290807
Disease: Diarrheal disorder
Diarrheal disorder 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 32 0.020 None 1.000 2 2011 2018
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 32 1 0.100 None 0
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		disease Digestive System Diseases Disease or Syndrome 38 19 0.800 None 0.978 45 13 1996 2018
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases Congenital Abnormality 38 18 0.010 None 1.000 1 2007 2007
CUI: C0271790
Disease: Subclinical hypothyroidism
Subclinical hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 40 10 0.010 None 1.000 1 2015 2015
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		disease Pathological Conditions, Signs and Symptoms Pathologic Function 44 1 0.100 None 0
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 48 31 0.100 None 1.000 1 1 2018 2018
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		disease Digestive System Diseases Disease or Syndrome 54 3 0.480 None 1.000 9 2001 2017