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Brugada syndrome 4
Summary
- Synonym
-
- BRGDA4
- Definition
- A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12.
- Super Class
- Brugada syndrome
External Links
- Disease Ontology
- DOID:0110221
- 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:0004308 | Ventricular arrhythmia |
| HP:0011704 | Sick sinus syndrome |
