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GENE - TERM ANNOTATION REPORT

RGD ID: 1620669
Species: Mus musculus
RGD Object: Gene
Symbol: Ank2
Name: ankyrin 2, brain
Acc ID: DOID:0060675
Term: catecholaminergic polymorphic ventricular tachycardia 1
Definition: A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12093772 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17875969 "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)
Ank2 ISOANK2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1PMID:16253912 PMID:22581653 PMID:25351510 PMID:25741868 PMID:26771585 PMID:28191889 PMID:28492532 PMID:28518168 PMID:30564305 PMID:32461654
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