Disease: Cholestasis, benign recurrent intrahepatic 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.720 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.720 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
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.720 GeneticVariation disease UNIPROT The intron 4 (+3)A > C, R930X and R432T represent previously undescribed mutations of the ABCB11 gene that confer a PFIC2 and a BRIC2 phenotype, respectively. 16039748 2005
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.720 GeneticVariation disease BEFREE The intron 4 (+3)A > C, R930X and R432T represent previously undescribed mutations of the ABCB11 gene that confer a PFIC2 and a BRIC2 phenotype, respectively. 16039748 2005
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.720 GeneticVariation disease UNIPROT Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. 15300568 2004
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.720 CausalMutation disease CLINVAR
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.720 GeneticVariation disease CLINVAR
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.720 Biomarker disease CTD_human
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.720 GermlineCausalMutation disease ORPHANET