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: 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: 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: 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: C4021883
Disease: Abnormal liver function tests during pregnancy
Abnormal liver function tests during pregnancy 		disease Finding 3 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: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 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: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 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: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 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: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 1019 100 0.080 None 1.000 8 2003 2017
CUI: C0860204
Disease: Cholestatic liver disease
Cholestatic liver disease 		disease Digestive System Diseases Disease or Syndrome 58 0.040 None 1.000 4 1996 2019
CUI: C0008354
Disease: Cholera
Cholera 		disease Infections Disease or Syndrome 209 1 0.040 None 1.000 4 2011 2018
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: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.030 None 1.000 3 2009 2018
CUI: C0085605
Disease: Liver Failure
Liver Failure 		disease Digestive System Diseases Disease or Syndrome 293 20 0.020 None 1.000 2 2010 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: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.010 None 1.000 1 2015 2015
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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.010 None 1.000 1 2006 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2014 2014
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.010 None 1.000 1 2014 2014