Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.360 Biomarker disease BEFREE Several diseases including progressive familial intrahepatic cholestasis type 3 (PFIC3), low phospholipid-associated cholelithiasis (LPAC), a subgroup of patients developing intrahepatic cholestasis of pregnancy (ICP), drug-induced liver injury and chronic cholangiopathy with biliary fibrosis and cirrhosis were attributed to ABCB4 deficiency and characterized in the past decade. 30357767 2018
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.360 GeneticVariation disease BEFREE Furthermore, severe ICP was associated with a MDR3 mutation, which has already been described in adult patients with liver cirrhosis. 27936482 2016
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.360 GeneticVariation disease BEFREE In patients with severe ABCB4 genotype, the disease is often progressive with risk of developing cirrhosis and liver failure during the first 2 decades of life. 21119540 2011
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.360 GeneticVariation disease BEFREE There is evidence that a biallelic or monoallelic ABCB4 defect causes or predisposes to several human liver diseases (PFIC3, low phospholipid associated cholelithiasis syndrome, intrahepatic cholestasis of pregnancy, drug-induced liver injury, transient neonatal cholestasis, adult biliary fibrosis, or cirrhosis). 20422496 2010
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.360 Biomarker disease CTD_human Integrin beta6 mRNA increased with fibrosis stage in hepatitis C and was upregulated between 25- and 100-fold in TAA- and BDL-induced cirrhosis, in Mdr2(Abcb4)(-/-) mice and in human end-stage liver disease. alphavbeta6 protein was absent in normal livers and expressed de novo on (activated) bile duct epithelia and transitional hepatocytes. 18221819 2008
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.360 GeneticVariation disease BEFREE A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. 18781607 2008
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.360 AlteredExpression disease BEFREE We found no evidence for deficient or severely reduced intrahepatic MDR3 mRNA in primary biliary cirrhosis, nor were mRNA levels altered significantly by virus-induced inflammation or by cirrhosis. 9126799 1997
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.360 Biomarker disease CTD_human Effects of Ursodeoxycholate and cholate feeding on liver disease in FVB mice with a disrupted mdr2 P-glycoprotein gene. 8698195 1996