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GENE - TERM ANNOTATION REPORT

RGD ID: 1318266
Species: Homo sapiens
RGD Object: Gene
Symbol: PKHD1
Name: PKHD1 ciliary IPT domain containing fibrocystin/polyductin
Acc ID: DOID:9005318
Term: Isolated Caroli Disease
Definition: null
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)
PKHD1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary treePMID:1189128 PMID:11898128 PMID:12874454 PMID:15805161 PMID:16133180 PMID:19914852 PMID:20413436 PMID:25701400 PMID:25741868 PMID:25741905 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27894351 PMID:28492532 PMID:29068549 PMID:31130284 PMID:31844813 PMID:31980526 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815
PKHD1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary treePMID:15698423 PMID:15805161 PMID:25741868 PMID:28492532 PMID:32359821 PMID:35715958
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