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GENE - TERM ANNOTATION REPORT

RGD ID: 730945
Species: Mus musculus
RGD Object: Gene
Symbol: Abcb11
Name: ATP-binding cassette, sub-family B member 11
Acc ID: DOID:0070223
Term: progressive familial intrahepatic cholestasis 3
Definition: A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/9419367 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Abcb11 ISOABCB11 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: MDR3 deficiencyPMID:16641580 PMID:18395098 PMID:19101985 PMID:22364601 PMID:25741868 PMID:27114171 PMID:28492532 PMID:28733223 PMID:33915153
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