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: 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: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.100 None 0
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		disease Pathological Conditions, Signs and Symptoms Pathologic Function 44 1 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: C4021882
Disease: Increased serum bile acid concentration during pregnancy
Increased serum bile acid concentration during pregnancy 		phenotype Finding 2 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: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0033774
Disease: Pruritus
Pruritus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 107 2 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 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
CUI: C4023004
Disease: Increased serum bile acid concentration
Increased serum bile acid concentration 		phenotype Finding 5 0.100 None 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0 1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 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: C4025805
Disease: Intermittent jaundice
Intermittent jaundice 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 3 0.100 None 0
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: C0151526
Disease: Premature Birth
Premature Birth 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 192 50 0.100 None 0
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: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 379 56 0.010 None < 0.001 1 2013 2013
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: 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: C0008370
Disease: Cholestasis
Cholestasis 		disease Digestive System Diseases Disease or Syndrome 420 15 0.100 None 0.958 24 1998 2019
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: 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: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		disease Digestive System Diseases Disease or Syndrome 54 3 0.480 None 1.000 9 2001 2017