General Information of Disease (ID: DIS6HGXF)

Disease Name Brugada syndrome 9
Synonyms KCND3 Brugada syndrome; Brugada syndrome caused by mutation in KCND3; BRGDA9; Brugada syndrome type 9; Brugada syndrome 9
Definition Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.
Disease Hierarchy
DISSGN0E: Brugada syndrome
DIS6HGXF: Brugada syndrome 9
Disease Identifiers
MONDO ID
MONDO_0014621
UMLS CUI
C4225340
OMIM ID
616399
MedGen ID
903155

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCND3 TTPLQO0 Limited Autosomal dominant [1]
KCND3 TTPLQO0 Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCND3 OTRPIH7J Limited Autosomal dominant [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2 Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.Hum Mutat. 2012 Jun;33(6):989-97. doi: 10.1002/humu.22058. Epub 2012 Mar 27.