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GENE - TERM ANNOTATION REPORT

RGD ID: 732397
Species: Mus musculus
RGD Object: Gene
Symbol: Jup
Name: junction plakoglobin
Acc ID: DOID:0050700
Term: cardiomyopathy
Definition: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Cardiomyopathy "DO" "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ "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)
Jup ISOJUP (Homo sapiens)1600286RGDNaxos disease, OMIM:601214 
Jup ISOJUP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: CardiomyopathyPMID:16467215 PMID:19863551 PMID:20525856 PMID:20864495 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25351510 PMID:25363768 PMID:25445213 PMID:25741868 PMID:25765472 PMID:26073755 PMID:27005929 PMID:27532257 PMID:28492532 PMID:29802319 PMID:29892012 PMID:30847666 PMID:31983221 PMID:32268277 PMID:34011629
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