Details of Disease | DrugMAP

General Information of Disease (ID: DISSSLRF)

Disease Name	Brugada syndrome 3
Synonyms	Brugada syndrome type 3; Brugada syndrome caused by mutation in CACNA1C; CACNA1C Brugada syndrome; BRGDA3; Brugada syndrome 3
Definition	Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.
Disease Hierarchy	DISSGN0E: Brugada syndrome DISSSLRF: Brugada syndrome 3
Disease Identifiers	MONDO ID MONDO_0012742 MESH ID C567509 UMLS CUI C2678478 OMIM ID 611875 MedGen ID 395633

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA1C	TTZIFHC	moderate	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNA1C	DTAIV1Z	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
CACNA1C	OT6KFNMS	Disputed	Autosomal dominant	[2]
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References

1	Emerging therapeutic targets in the short QT syndrome.Expert Opin Ther Targets. 2018 May;22(5):439-451. doi: 10.1080/14728222.2018.1470621.
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.