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GENE - TERM ANNOTATION REPORT

RGD ID: 8968662
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Kcne3
Name: potassium voltage-gated channel subfamily E regulatory subunit 3
Acc ID: DOID:0110223
Term: Brugada syndrome 6
Definition: A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19122847 "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)
Kcne3 ISOKCNE3 (Homo sapiens)7240710OMIM  
Kcne3 ISOKCNE3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Brugada syndrome 6 | ClinVar Annotator: match by term: KCNE3-related conditionPMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 PMID:16313760 PMID:16449802 PMID:17395131 PMID:18209471 PMID:19122847 PMID:19306396 PMID:21899751 PMID:22987075 PMID:23861362 PMID:24033266 PMID:25741868 PMID:25741881 PMID:28492532 PMID:28747690 PMID:28855170 PMID:29247119 PMID:30847666 PMID:39481677
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