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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13784515
Species: Homo sapiens
RGD Object: Variant
Symbol: CV544195
Name: NM_138694.4(PKHD1):c.6809-2A>G
Acc ID: DOID:0080212
Term: polycystic kidney disease 4
Definition: A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene. (DO)
Definition Source(s): https://www.omim.org/entry/173900 "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)
CV544195 IAGP 8554872ClinVarClinVar Annotator: match by term: Polycystic kidney disease 4PMID:16199547 PMID:19940839 PMID:25741868 PMID:28492532
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