Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Progressive familial intrahepatic cholestasis 2 ABCB11 disease C3489789 AlteredExpression 0.8 orphanet , disgenet
Progressive familial intrahepatic cholestasis 2 ABCB11 disease C3489789 GeneticVariation 0.8 orphanet , disgenet
Progressive familial intrahepatic cholestasis 2 ABCB11 disease C3489789 Biomarker 0.8 orphanet , disgenet
Progressive familial intrahepatic cholestasis 2 ABCB11 disease C3489789 CausalMutation 0.8 orphanet , disgenet
Progressive familial intrahepatic cholestasis 2 ABCB11 disease C3489789 GermlineCausalMutation 0.8 orphanet , disgenet
Progressive familial intrahepatic cholestasis 2 ATP8B1 disease C3489789 GeneticVariation 0.04 disgenet
Progressive familial intrahepatic cholestasis 2 ATP8B1 disease C3489789 Biomarker 0.04 disgenet
Progressive familial intrahepatic cholestasis 2 ABCB4 disease C3489789 GeneticVariation 0.01 disgenet
Progressive familial intrahepatic cholestasis 2 CELA3B disease C3489789 GeneticVariation 0.01 disgenet
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