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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:9001512
Term: Familial Amyloid Polyneuropathies
Definition: Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN.
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: Familial amyloid polyneuropathyPMID:25351510 PMID:25741868 PMID:28492532 PMID:28600387 PMID:30847666
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