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GENE - TERM ANNOTATION REPORT

RGD ID: 12715923
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Pkp2
Name: plakophilin 2
Acc ID: DOID:0110443
Term: dilated cardiomyopathy 1B
Definition: A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/7573045 "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)
Pkp2 ISOPKP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familialPMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
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