DisGeNET - a database of gene-disease associations

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

N. diseases: 287; N. variants: 533

Disease: Early Infantile Epileptic Encephalopathy 6 ×

Variant: rs794726710 ×

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:

rs794726710

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

"Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."

26096185

2015

dbSNP:

rs794726710

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

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

18930999

2009

dbSNP:

rs794726710

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

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

12566275

2003