Disease: Intrahepatic Cholestasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 Biomarker disease BEFREE Mutational analysis in ABCB11 could facilitate the elucidation of the molecular mechanisms underlying the development of intrahepatic cholestasis. 29507376 2018
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 Biomarker disease BEFREE In addition to familial intrahepatic cholestasis, partial defects in <i>ATP8B1</i>, <i>ABCB11,</i> and <i>ABCB4</i> predispose patients to drug-induced cholestasis and intrahepatic cholestasis in pregnancy. 30148122 2018
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 GeneticVariation disease BEFREE Detection of mutations in genes encoding hepatobiliary transport proteins like familial intrahepatic cholestasis 1 (FIC1), bile salt export pump (BSEP), or multidrug resistance protein 3 (MDR3) is the basis to differentiate various forms of intrahepatic cholestasis. 26666282 2015
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 GeneticVariation disease BEFREE As one type of inherited intrahepatic cholestasis, progressive familial intrahepatic cholestasis type 2 (PFIC2) is caused by pathogenic mutations in the ABCB11 gene, HRM was used to detect mutations in the ABCB11 gene in the present study, and the diagnosis for PFIC2 was made by comprehensive analysis of genetic findings and clinical features. 24969679 2014
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 GeneticVariation disease BEFREE We speculate that this compound ABCB4-ABCB11 genotype led to a severe intrahepatic cholestasis in the setting of HAV infection. 22947535 2013
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 Biomarker disease BEFREE This review describes the molecular characteristics and physiological roles of BSEP, the trafficking and sorting machinery of BSEP, and the mechanisms responsible for disturbance of BSEP, which causes intrahepatic cholestasis. 23876151 2013
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 GeneticVariation disease BEFREE Here we report the first case of a patient with combined hereditary spherocytosis and compound heterozygous ABCB11 gene variants predisposing to intrahepatic cholestasis. 21811948 2011
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 Biomarker disease LHGDN These results will help to develop mutation-specific therapies for children and adults suffering from intrahepatic cholestasis due to BSEP deficiency. 19101985 2009
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 GeneticVariation disease BEFREE These results will help to develop mutation-specific therapies for children and adults suffering from intrahepatic cholestasis due to BSEP deficiency. 19101985 2009
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 GeneticVariation disease BEFREE Inherited syndromes of intrahepatic cholestasis commonly result from mutations in the genes SERPINA1 (alpha(1)-antitrypsin deficiency), JAG1 (Alagille syndrome), ATP8B1 (progressive familial intrahepatic cholestasis type 1 [PFIC1]), ABCB11 (PFIC2), and ABCB4 (PFIC3). 17241866 2007
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 Biomarker disease CTD_human Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. 18049162 2007
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 GeneticVariation disease LHGDN A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. 16290310 2006
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 Biomarker disease LHGDN High-speed screening and QSAR analysis of human ATP-binding cassette transporter ABCB11 (bile salt export pump) to predict drug-induced intrahepatic cholestasis. 16749857 2006
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 GeneticVariation disease BEFREE By combining functional in-vitro characterization with immunohistochemical detection of variant BSEP we provide direct evidence for the role of ABCB11 mutations in the pathogenesis of different forms of intrahepatic cholestasis. 16039748 2005
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 GeneticVariation disease LHGDN By combining functional in-vitro characterization with immunohistochemical detection of variant BSEP we provide direct evidence for the role of ABCB11 mutations in the pathogenesis of different forms of intrahepatic cholestasis. 16039748 2005
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 Biomarker disease BEFREE FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. 11815775 2002
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 Biomarker disease HPO
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.500 CausalMutation disease CLINVAR