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GENE - TERM ANNOTATION REPORT

RGD ID: 621060
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Psen2
Name: presenilin 2
Acc ID: DOID:12930
Term: dilated cardiomyopathy
Definition: An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Dilated_cardiomyopathy "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)
Psen2 ISOPSEN2 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:17186461
Psen2 ISOPSEN2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathyPMID:20458010 PMID:21483645 PMID:22412221 PMID:24754482 PMID:28492532 PMID:28985224
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