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GENE - TERM ANNOTATION REPORT

RGD ID: 620314
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ryr2
Name: ryanodine receptor 2
Acc ID: DOID:0110644
Term: long QT syndrome 1
Definition: A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17192539 "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)
Ryr2 ISORYR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Long QT syndrome 1PMID:25741868 PMID:28492532
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