Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Additionally, rare monogenetic diseases exist which can be explained by absence of function or dysfunction of specific hepatic transporters, such as progressive familial intrahepatic cholestasis type 2 by genetic modifications in BSEP that lead to a loss of transporter function. 31004787 2020
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Bile acid imbalance causes progressive familial intrahepatic cholestasis type 2 (PFIC2) or type 3 (PFIC3), severe liver diseases associated with genetic defects in the biliary bile acid transporter bile salt export pump (BSEP; ABCB11) or phosphatidylcholine transporter multidrug resistance protein 3 (MDR3; ABCB4), respectively. 30416103 2019
Cholestasis, progressive familial intrahepatic 1
0.400 Biomarker disease BEFREE NGS of high C-triol infants identified three patients with mutations in JAG1 (Alagille syndrome) and ABCB11 (Byler disease) genes. 31296176 2019
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Mutations in ABCB11, the gene encoding BSEP, induce progressive familial intrahepatic cholestasis type 2 (PFIC2), which presents with severe jaundice and liver dysfunction. 29507376 2018
Cholestasis, progressive familial intrahepatic 1
0.400 Biomarker disease BEFREE Mutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive familial intrahepatic cholestasis (PFIC) 1, 2 and 3, and recently the gene for tight junction protein-2 (TJP2) has been linked to PFIC4. 29238877 2018
Cholestasis, progressive familial intrahepatic 1
0.400 Biomarker disease BEFREE Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2) is a rare cholestatic disorder diagnosed in infancy or childhood that can lead to severe hepatic fibrosis and liver failure. 28425419 2017
Cholestasis, progressive familial intrahepatic 1
0.400 Biomarker disease BEFREE Mutation of the ABCB11 gene encoding BSEP induces BSEP deficiency and progressive familial intrahepatic cholestasis type 2 (PFIC2). 28150711 2017
Cholestasis, progressive familial intrahepatic 1
0.400 Biomarker disease BEFREE In summary, our findings suggest that residual function of BSEP as well as substrate specificity influence the therapeutic effectiveness of PEBD in progressive familial intrahepatic cholestasis type 2 (PFIC-2). 28839429 2017
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive cholestatic diseases of childhood and represents the main indication for liver transplantation at this age; PFIC2 involves ABCB11 gene, that encodes the ATPdependent canalicular bile salt export pump (BSEP). 27493120 2017
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Over 150 BSEP mutations are associated with progressive familial intrahepatic cholestasis type 2 (PFIC-2), with few characterised specifically. 27114171 2016
Cholestasis, progressive familial intrahepatic 1
0.400 Biomarker disease BEFREE Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis. 27239116 2016
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Progressive familial intrahepatic cholestasis type 2 (PFIC 2) results from mutations in ABCB11 gene coding bile salt export pump (BSEP). 26019043 2016
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Progressive familial intrahepatic cholestasis type 2 (PFIC-2) is caused by mutations in ABCB11, encoding the bile salt export pump (BSEP). 26516723 2016
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a result of mutations in ABCB11 encoding bile salt export pump (BSEP), the canalicular bile salt export pump of hepatocyte. 25716872 2015
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Mutations in the gene encoding the canalicular bile salt export pump (BSEP) can result in progressive familial intrahepatic cholestasis type 2 (PFIC-2). 25847799 2015
Cholestasis, progressive familial intrahepatic 1
0.400 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
Cholestasis, progressive familial intrahepatic 1
0.400 Biomarker disease BEFREE Mutations in BSEP are associated with cholestatic diseases such as progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2), drug-induced cholestasis, and intrahepatic cholestasis of pregnancy. 23685087 2014
Cholestasis, progressive familial intrahepatic 1
0.400 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
Cholestasis, progressive familial intrahepatic 1
0.400 AlteredExpression disease BEFREE We conclude that 4PB therapy would have a therapeutic effect in patients with progressive familial intrahepatic cholestasis type 2 who retain transport activity of BSEP per se. 24530123 2014
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Progressive familial intrahepatic cholestasis type 2 (PFIC2) is an autosomal recessive disease due to mutations in ABCB11. 25085279 2014
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Progressive familial intrahepatic cholestasis type 2 (PFIC2) results from recessive mutations in the adenosine triphosphate-binding cassette B11 gene, which encodes for bile salt export pump (BSEP). 24115678 2013
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Clinical phenotypes associated with BSEP mutations are commonly categorized as benign recurrent intrahepatic cholestasis (BRIC-2) or progressive familial intrahepatic cholestasis (PFIC-2). 23758865 2013
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Progressive familial intrahepatic cholestasis type 2 (PFIC2) is due to mutations in ABCB11 encoding the canalicular bile salt export pump (BSEP) of hepatocyte. 22609309 2012
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Progressive familial intrahepatic cholestasis (PFIC), types 1, 2 and 3, are due to defects in genes involved in bile secretion (FIC1, BSEP, MDR3). 22609295 2012
Cholestasis, progressive familial intrahepatic 1
0.400 GeneticVariation disease BEFREE Such progressive familial intrahepatic cholestasis (PFIC) comes in three types of autosomal recessive disease.PFIC2 is caused by mutation to ABCB11. 21984474 2012