DisGeNET - a database of gene-disease associations

SCN1A, sodium voltage-gated channel alpha subunit 1, 6323

N. diseases: 287; N. variants: 533

Source: ALL

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:

rs1043031572

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4014430
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.700

CausalMutation

CLINVAR

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

18930999

2009

dbSNP:

rs1057517958

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1057518671

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1057519529

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C0543888
Disease:

Epileptic encephalopathy

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057519530

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

CLINVAR

dbSNP:

rs1057519530

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

20298421

2010

dbSNP:

rs1057519531

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057519533

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

UNIPROT

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

20298421

2010

dbSNP:

rs1057519533

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.800

GeneticVariation

CLINVAR

dbSNP:

rs1057519534

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057521079

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C1858673
Disease:

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057521079

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1057521080

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1057521537

Entrez Id:	6323;101929680;102724058
Gene Symbol:	SCN1A;SCN1A-AS1;LOC102724058

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C4552072
Disease:

X-linked infantile spasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs1057523858

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

GeneticVariation

UNIPROT

The spectrum of SCN1A-related infantile epileptic encephalopathies.

17347258

2007

dbSNP:

rs1057523858

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4552072
Disease:

X-linked infantile spasms

0.700

CausalMutation

CLINVAR

Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

23195492

2012

dbSNP:

rs1057523858

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

GeneticVariation

UNIPROT

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

26993267

2016

dbSNP:

rs1057523858

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

GeneticVariation

UNIPROT

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

12821740

2003

dbSNP:

rs1057523858

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

GeneticVariation

UNIPROT

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

14738421

2004

dbSNP:

rs1057523858

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

GeneticVariation

UNIPROT

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

16122630

2005

dbSNP:

rs1057523858

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

GeneticVariation

UNIPROT

Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

19563458

2010

dbSNP:

rs1057523858

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

GeneticVariation

UNIPROT

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

23708187

2013

dbSNP:

rs1057523858

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

GeneticVariation

UNIPROT

Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

19522081

2009

dbSNP:

rs1057523858

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4551549
Disease:

Early Infantile Epileptic Encephalopathy 6

0.700

GeneticVariation

UNIPROT

Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

20729507

2010

dbSNP:

rs1057523858

Entrez Id:	6323;101929680
Gene Symbol:	SCN1A;SCN1A-AS1

SCN1A;SCN1A-AS1

CUI:	C4552072
Disease:

X-linked infantile spasms

0.700

CausalMutation

CLINVAR

A catalog of SCN1A variants.

18804930

2009