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GENE - TERM ANNOTATION REPORT

RGD ID: 732405
Species: Mus musculus
RGD Object: Gene
Symbol: Pln
Name: phospholamban
Acc ID: DOID:0110324
Term: hypertrophic cardiomyopathy 18
Definition: A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12705874 "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)
Pln ISOPLN (Homo sapiens)7240710OMIM  
Pln ISOPLN (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pln ISOPLN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18PMID:12610310 PMID:12639993 PMID:12705874 PMID:16235537 PMID:16829191 PMID:17655857 PMID:21167350 PMID:21332051 PMID:22137083 PMID:23396983 PMID:23861362 PMID:24033266 PMID:25611685 PMID:25741868 PMID:26535225 PMID:26573135 PMID:26688388 PMID:27532257 PMID:28492532 PMID:28600387 PMID:28790153 PMID:31705731 PMID:31737537
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