Details of Disease

General Information of Disease (ID: DIS29GET)

Disease Name Brugada syndrome 4
Synonyms CACNB2 Brugada syndrome; Brugada syndrome type 4; Brugada syndrome 4; Brugada syndrome caused by mutation in CACNB2; BRGDA4
Definition Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.
Disease Hierarchy
DISSGN0E: Brugada syndrome
DIS29GET: Brugada syndrome 4
Disease Identifiers
MONDO ID
MONDO_0012743
MESH ID
C567508
UMLS CUI
C2678477
OMIM ID
611876
MedGen ID
395632

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
CACNB2 DTBZWL4 Limited Biomarker [1]
CACNB2 DTBZWL4 Disputed Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CACNB2 OT53K8W2 Disputed Autosomal dominant [2]
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References

1 Genetics of Brugada syndrome.J Arrhythm. 2016 Oct;32(5):418-425. doi: 10.1016/j.joa.2016.07.012. Epub 2016 Sep 12.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.