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GENE - TERM ANNOTATION REPORT

CRRD ID: 8751788
Species: Chinchilla lanigera
CRRD Object: Gene
Symbol: Slc22a14
Name: solute carrier family 22 member 14
Acc ID: DOID:0050451
Term: Brugada syndrome
Definition: An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
Definition Source(s): MESH:D053840, http://en.wikipedia.org/wiki/Brugada_syndrome
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISSRGD:119014949068941ClinVarClinVar Annotator: match by term: Brugada syndrome

PMID:20129283, PMID:22789973, PMID:28492532
 ISSRGD:119014949068941ClinVarClinVar Annotator: match by term: Brugada syndrome

PMID:28492532
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