DisGeNET - a database of gene-disease associations

Source: UNIPROT

Gene: SCN5A ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs45620037

SCN5A

CUI:	C1837845
Disease:	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE

SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

dbSNP:

rs727504495

SCN5A

CUI:	C1837845
Disease:	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE

SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

UNIPROT

dbSNP:

rs45609733

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.700

GeneticVariation

UNIPROT

dbSNP:

rs45609733

SCN5A

CUI:	C4551804
Disease:	Brugada Syndrome 1

Brugada Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs45514691

SCN5A

CUI:	C4551804
Disease:	Brugada Syndrome 1

Brugada Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs41261344

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.700

GeneticVariation

UNIPROT

dbSNP:

rs41261344

SCN5A

CUI:	C4551804
Disease:	Brugada Syndrome 1

Brugada Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs12720452

SCN5A

CUI:	C4551804
Disease:	Brugada Syndrome 1

Brugada Syndrome 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs12720452

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.700

GeneticVariation

UNIPROT

dbSNP:

rs137854618

SCN5A

CUI:	C4551959
Disease:	ATRIAL STANDSTILL 1

ATRIAL STANDSTILL 1

0.700

GeneticVariation

UNIPROT

A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.

12522116

2003

dbSNP:

rs137854600

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.840

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003

dbSNP:

rs137854601

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.820

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003

dbSNP:

rs199473603

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.810

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003

dbSNP:

rs199473311

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.810

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003

dbSNP:

rs199473283

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.810

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003

dbSNP:

rs137854614

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.810

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003

dbSNP:

rs72549410

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.800

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003

dbSNP:

rs45546039

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.800

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003

dbSNP:

rs28937317

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.800

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003

dbSNP:

rs28937316

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.800

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003

dbSNP:

rs199473310

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.800

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003

dbSNP:

rs199473266

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.800

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003

dbSNP:

rs199473121

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.800

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003

dbSNP:

rs199473097

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.800

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003

dbSNP:

rs199473072

SCN5A

CUI:	C1859062
Disease:	LONG QT SYNDROME 3

LONG QT SYNDROME 3

0.800

GeneticVariation

UNIPROT

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

12454206

2003