DisGeNET - a database of gene-disease associations

rs137854611, SCN5A

N. diseases: 2

Disease: SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE ×

Source: UNIPROT ×

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE

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

0.700

GeneticVariation

UNIPROT

[Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene].

22795782

2012

SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE

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

0.700

GeneticVariation

UNIPROT

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).

14523039

2003

SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE

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

0.700

GeneticVariation

UNIPROT

Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family.

11748104

2001