DisGeNET - a database of gene-disease associations

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

N. diseases: 287; N. variants: 533

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 ×

Variant: rs1559199628 ×

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:

rs1559199628

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

SCN1A;SCN1A-AS1

CUI:	C4014430
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.700

CausalMutation

CLINVAR

UniProt: a hub for protein information.

25348405

2015

dbSNP:

rs1559199628

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

SCN1A;SCN1A-AS1

CUI:	C4014430
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.700

CausalMutation

CLINVAR

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

23195492

2012

dbSNP:

rs1559199628

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

SCN1A;SCN1A-AS1

CUI:	C4014430
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.700

CausalMutation

CLINVAR

A catalog of SCN1A variants.

18804930

2009