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GENE - TERM ANNOTATION REPORT

RGD ID: 1314134
Species: Mus musculus
RGD Object: Gene
Symbol: Fkrp
Name: fukutin related protein
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)
Fkrp ISOFKRP (Homo sapiens)11667064RGDDNA:missense mutation:exon:p.L276I (826C>A) (human) 
Fkrp ISOFKRP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathyPMID:11741828 PMID:16344347 PMID:17994539 PMID:18832576 PMID:22451200 PMID:25741868 PMID:27884173 PMID:28492532 PMID:28688748
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