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GENE - TERM ANNOTATION REPORT

RGD ID: 1308097
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Actn2
Name: actinin alpha 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)
Actn2 ISOACTN2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathyPMID:14567970 PMID:17097056 PMID:20022194 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25224718 PMID:25741868 PMID:26899768 PMID:27287556 PMID:27896284 PMID:28492532 PMID:32931854 PMID:35656879
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