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Browse result for progressive familial intrahepatic cholestasis

※ introduction

    An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

Reference
DiseaseOntology: progressive familial intrahepatic cholestasis



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD03414O953428647
ABCB11
Bile salt export pump
Homo sapiens
PTMD04473P214395244
ABCB4
Phosphatidylcholine translocator ABCB4
Homo sapiens
PTMD08636Q70EK854532
USP53
Inactive ubiquitin carboxyl-terminal hydrolase 53
Homo sapiens
PTMD14425Q9ULV04645
MYO5B
Unconventional myosin-Vb
Homo sapiens