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GENE - TERM ANNOTATION REPORT

RGD ID: 18629040
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: HNF4A
Name: hepatocyte nuclear factor 4 alpha
Acc ID: DOID:0050770
Term: polycystic liver disease
Definition: A liver disease that is characterized by the presence of multiple cysts located_in the liver. (DO)
Definition Source(s): https://rarediseases.org/rare-diseases/polycystic-liver-disease/ "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)
HNF4A ISOHNF4A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital cystic disease of liverPMID:10227563 PMID:21105491 PMID:23227446 PMID:23247789 PMID:24097065 PMID:25741868 PMID:25905084 PMID:26059258 PMID:26467025 PMID:27884173 PMID:28492532 PMID:29355436 PMID:30191603 PMID:31264968 PMID:31595705 PMID:33846082 PMID:34373539 PMID:35256061
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