DisGeNET - a database of gene-disease associations

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

N. diseases: 287; N. variants: 533

Disease: Movement Disorders ×

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:

rs1553540213

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

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Genotype-phenotype associations in SCN1A-related epilepsies.

21248271

2011

dbSNP:

rs121917995

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

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.

9126059

1997

dbSNP:

rs1553540213

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

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.

9126059

1997

dbSNP:

rs121917995

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

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Dravet syndrome--from epileptic encephalopathy to channelopathy.

24836964

2014

dbSNP:

rs1553540213

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

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Dravet syndrome--from epileptic encephalopathy to channelopathy.

24836964

2014

dbSNP:

rs121917995

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

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief.

21463290

2011

dbSNP:

rs1553540213

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

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief.

21463290

2011

dbSNP:

rs121917995

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

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

11359211

2001

dbSNP:

rs1553540213

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

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

11359211

2001

dbSNP:

rs121917995

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

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

18413471

2008

dbSNP:

rs1553540213

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

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

18413471

2008

dbSNP:

rs121917995

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

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.

21269283

2011

dbSNP:

rs1553540213

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

SCN1A;SCN1A-AS1;LOC102724058

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients.

21269283

2011