Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.110 Biomarker phenotype BEFREE MYO5B deficiency appears to impair targeting of BSEP to the canalicular membrane with hampered bile acid excretion, resulting in a spectrum of cholestasis without diarrhea.(Hepatology 2017;65:1655-1669). 28027573 2017
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.110 Biomarker phenotype HPO