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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
External Links
- Disease Ontology
- DOID:0110218
- Mondo Disease Ontology
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14524 | Sodium channel protein type 5 subunit alpha |
| UniProt ID | Protein Name | Source |
|---|---|---|
| A0A0R4J1M7 | Sodium channel protein |
- The Human Phenotype Ontology
| 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 |
