ATP8B1, ATPase phospholipid transporting 8B1, 5205

N. diseases: 70; N. variants: 38
Disease: Diarrhea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.120 Biomarker phenotype BEFREE Here we have studied the hypothesis that intestinal ATP8B1 deficiency results in bile salt malabsorption as a possible cause of PFIC1/BRIC1 diarrhea. 25239307 2014
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.120 GeneticVariation phenotype BEFREE We searched for FIC1 mutations and analyzed the outcome of extrahepatic features after liver transplantation in two children with this form of progressive familial intrahepatic cholestasis associated with chronic unexplained diarrhea and short stature. 12927934 2003
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.120 Biomarker phenotype HPO