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Brugada syndrome 3
Summary
- Synonym
-
- BRGDA3
- Definition
- A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13.
- Super Class
- Brugada syndrome
External Links
- Disease Ontology
- DOID:0110220
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00767 | Stearoyl-CoA desaturase | |
| P07741 | Adenine phosphoribosyltransferase | |
| P22304 | Iduronate 2-sulfatase | |
| P54289 | Voltage-dependent calcium channel subunit alpha-2/delta-1 | |
| Q8N335 | Glycerol-3-phosphate dehydrogenase 1-like protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001695 | Cardiac arrest |
| HP:0011715 | Trifascicular block |
| HP:0001649 | Tachycardia |
| HP:0012251 | ST segment elevation |
| HP:0004755 | Supraventricular tachycardia |
| HP:0001279 | Syncope |
| HP:0004751 | Paroxysmal ventricular tachycardia |
| HP:0011705 | First degree atrioventricular block |
| HP:0001663 | Ventricular fibrillation |
| HP:0011712 | Right bundle branch block |
