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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:0110307
Term: hypertrophic cardiomyopathy 1
Definition: A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/1975517 "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)8554872ClinVarClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosisPMID:21859740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27662471 PMID:27930701 PMID:28492532 PMID:28831623
Jup ISOJUP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosisPMID:21859740 PMID:23861362 PMID:24033266 PMID:25741868 PMID:27662471 PMID:28166811 PMID:28492532 PMID:28831623
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