Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
0.700 GermlineCausalMutation disease ORPHANET Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. 26888176 2016
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
0.700 Biomarker disease CTD_human
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
0.700 CausalMutation disease CLINVAR
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5
0.700 Biomarker disease GENOMICS_ENGLAND