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

CausalMutation

CLINVAR

Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.

8541846

1995

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Multiple mechanisms of Na+ channel--linked long-QT syndrome.

8620612

1996

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome.

8917568

1996

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel.

9495298

1998

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.

9506831

1998

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.

9521325

1998

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.

9521325

1998

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.

10377081

1999

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Cardiac conduction defects associate with mutations in SCN5A.

10471492

1999

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.

10532948

1999

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.

10618304

2000

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.

10618304

2000

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

In this study we have identified and electrophysiologically characterized, in patients having either LQTS or Brugada syndrome, three mutations in SCN5A (a cardiac sodium channel gene).

10727653

2000

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

"A revised view of cardiac sodium channel ""blockade"" in the long-QT syndrome."

10772658

2000

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.

10940383

2000

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge.

10961955

2000

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

10973849

2000

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

10973849

2000

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Enhanced Na(+) channel intermediate inactivation in Brugada syndrome.

11029409

2000

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation.

11123251

2001

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.

11410597

2001

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.

11804990

2002

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

We screened patients with SUNDS for mutations in SCN5A, the gene known to cause Brugada syndrome, as well as genes encoding ion channels associated with the long-QT syndrome.

11823453

2002

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

CausalMutation

CLINVAR

We screened patients with SUNDS for mutations in SCN5A, the gene known to cause Brugada syndrome, as well as genes encoding ion channels associated with the long-QT syndrome.

11823453

2002

Entrez Id:	6331
Gene Symbol:	SCN5A

SCN5A

CUI:	C1142166
Disease:	Brugada Syndrome (disorder)

Brugada Syndrome (disorder)

1.000

GeneticVariation

CLINVAR

A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease.

11827685

2002