DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Brugada Syndrome (disorder) ×

Gene: SCN5A ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.

28341781

2017

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths.

29247119

2017

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.

29202755

2017

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.

28341588

2017

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).

28600387

2017

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

27532257

2017

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death.

28782696

2017

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).

28600387

2017

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.

28341781

2017

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome.

26798387

2016

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

27930701

2016

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

A Brugada syndrome proband with compound heterozygote SCN5A mutations identified from a Chinese family in Singapore.

25829473

2016

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations.

27287068

2016

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias.

26467377

2016

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Mutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents.

26733869

2015

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture.

26111534

2015

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

26173111

2015

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations.

26283144

2015

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.

26392562

2015

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

UniProt: a hub for protein information.

25348405

2015

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.

25650408

2015

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Familial Paralysis of the Atrium Due to a Mutation in SCN5A.

26304136

2015

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

26173111

2015

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels.

25741286

2015

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

25904541

2015