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GENE - TERM ANNOTATION REPORT

RGD ID: 12620109
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Hcn4
Name: hyperpolarization activated cyclic nucleotide gated potassium channel 4
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): http://en.wikipedia.org/wiki/Brugada_syndrome "DO", MESH:D053840
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)
Hcn4 ISORGD:135218749068941ClinVarClinVar Annotator: match by term: Brugada syndrome

PMID:25637381
Hcn4 ISORGD:98323739068941ClinVarClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)

PMID:25741868, PMID:28341588, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.