Brugada syndrome 1

Summary
Synonym
  • BRGDA1
Definition
A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22.
Super Class
Brugada syndrome autosomal dominant disease
Disease Ontology
DOID:0110218
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6331 SCN5A sodium voltage-gated channel alpha subunit 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
20271 Scn5a sodium channel, voltage-gated, type V, alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
25665 Scn5a sodium voltage-gated channel alpha subunit 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
32619 para paralytic
The Human Phenotype Ontology
Displaying entries 1 - 10 of 12 in total
HPO ID HPO Term
HP:0011704 Sick sinus syndrome
HP:0001695 Cardiac arrest
HP:0012251 ST segment elevation
HP:0001649 Tachycardia
HP:0011712 Right bundle branch block
HP:0004751 Paroxysmal ventricular tachycardia
HP:0001279 Syncope
HP:0011705 First degree atrioventricular block
HP:0004308 Ventricular arrhythmia
HP:0011715 Trifascicular block
Displaying all 2 entries
Gene ID Gene Symbol Description
23171 GPD1L glycerol-3-phosphate dehydrogenase 1 like
781 CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024