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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
Reference
DiseaseOntology: progressive familial intrahepatic cholestasis
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD03414 | O95342 | 8647 | ABCB11 | Bile salt export pump | Homo sapiens |
| PTMD04473 | P21439 | 5244 | ABCB4 | Phosphatidylcholine translocator ABCB4 | Homo sapiens |
| PTMD08636 | Q70EK8 | 54532 | USP53 | Inactive ubiquitin carboxyl-terminal hydrolase 53 | Homo sapiens |
| PTMD14425 | Q9ULV0 | 4645 | MYO5B | Unconventional myosin-Vb | Homo sapiens |
