Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.720 GeneticVariation 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
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
CUI: C2608083
Disease: Cholestasis, benign recurrent intrahepatic 2
Cholestasis, benign recurrent intrahepatic 2 		0.720 GeneticVariation UNIPROT Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. 15300568

2004