Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE BSEP deficiency leads to severe cholestasis and hepatocellular carcinoma (HCC) in young children. 23213087 2013
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE MYO5B deficiency appears to impair targeting of BSEP to the canalicular membrane with hampered bile acid excretion, resulting in a spectrum of cholestasis without diarrhea.(Hepatology 2017;65:1655-1669). 28027573 2017
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE Children with normal γ-glutamyltransferase cholestasis (n = 47; 13 patients with ATP8B1 deficiency, 19 with ATP-binding cassette, subfamily B (MDR/TAP), member 11 (ABCB11) deficiency, and 15 without either ATP8B1 or ABCB11 mutations) were enrolled. 26382629 2015
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease RGD Our data suggest that the adenovirus-mediated hepatocyte hAQP1 expression improves LPS-induced cholestasis in rats by stimulating the BSEP/ABCB11-mediated biliary bile acid excretion; a finding that might contribute to the understanding and treatment of sepsis-associated cholestatic diseases. 29087027 2017
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE GE significantly increased canalicular bile acids secretion via BSEP (P<0.05), subsequently stimulating bile flow during cholestasis. 27988401 2017
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE BSEP inhibitor drugs produce similar bile salt retention that may lead to severe cholestasis and liver damage. 22120137 2012
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease CTD_human Cholestatic potential of troglitazone as a possible factor contributing to troglitazone-induced hepatotoxicity: in vivo and in vitro interaction at the canalicular bile salt export pump (Bsep) in the rat. 11179459 2001
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease CTD_human Drug-induced cholestasis is a frequently observed side effect of drugs and is often caused by an unexpected interaction with the bile salt export pump (BSEP/ABCB11). 24713091 2014
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE Endotoxin-induced cholestasis in rodents is caused by hepatic downregulation of transporters, including the basolateral Na+-dependent taurocholate transporter (ntcp) and the canalicular bile salt export pump (bsep) and multidrug resistance-associated protein 2 (mrp2). 15205115 2004
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE ABCB11 is associated with progressive familial cholestasis. 16941683 2006
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease CTD_human Organic anion transporting polypeptide 1a1 null mice are sensitive to cholestatic liver injury. 22461449 2012
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE The bile salt export pump (BSEP or ABCB11) prevents accumulation of toxic bile salt concentrations in hepatocytes, and BSEP inhibition or deficiency may cause cholestasis and liver injury. 23588305 2013
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE The cholestasis potential of compounds can be determined by specifically investigating the ability to inhibit BSEP-mediated uptake of tauro-nor-THCA-24-DBD, a fluorescent bile salt derivative. 31016647 2019
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE In human, inhibition of BSEP by drugs has been related to drug-induced cholestasis and subsequent cytotoxic effects. 24359682 2013
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE Our results suggest that cholestasis in MVID patients results from (1) impairment of the MYO5B/RAB11A apical recycling endosome pathway in hepatocytes, (2) altered targeting of BSEP to the canalicular membrane, and (3) increased ileal BA absorption. 24375397 2014
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 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: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE One of the major players involved in drug-induced cholestasis is the bile salt efflux pump (BSEP; ABCB11). 29309877 2018
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE Although the exact etiology of cholestasis is incompletely understood, it is hypothesized that ATP8B1 deficiency results in enhanced cholesterol extraction from the canalicular membrane, which impairs the function of the bile salt export pump (BSEP), resulting in cholestasis. 20422494 2010
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE BSEP deficiency causes cytotoxic accumulation of bile salts in the hepatocyte that results in mild-to-severe forms of cholestasis. 28220208 2017
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE Bile salt export pump (BSEP) plays an important role in hepatic secretion of bile acids and its deficiency results in severe cholestasis and liver failure. 28150711 2017
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE In this article, we review the potential clinical implications of the major BS transporters BSEP, OSTα/OSTβ and NTCP in the pathogenesis of hereditary and acquired cholestatic syndromes, provide an overview on transcriptional control of these transporters by the key regulatory nuclear receptors and discuss the potential therapeutic role of novel transcriptional activators of BS transporters in cholestasis. 24333169 2014
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE The most commonly used in vitro models rely on the extent of inhibition of bile salt export pump-mediated taurocholic acid transport, thereby assuming that drug-induced cholestasis mechanisms are merely restricted to the interaction with this sole hepatic transporter. 31016665 2019
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease RGD Estradiol-17beta-D-glucuronide induces endocytic internalization of Bsep in rats. 12702498 2003
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE Decreased function of the bile salt export pump (BSEP) in hepatocytes is suggested to be responsible for the severe cholestasis observed in PFIC1. 25022842 2014
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.600 Biomarker disease BEFREE ECL1, a unique domain of BSEP, likely is a critical target involved in transport inhibition as demonstrated in several patients with AIBD manifest as cholestasis. 26516723 2016