DisGeNET - a database of gene-disease associations

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

N. diseases: 287; N. variants: 533

Disease: X-linked infantile spasms ×

Variant: rs1553524865 ×

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:

rs1553524865

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

Genotype-phenotype associations in SCN1A-related epilepsies.

21248271

2011

dbSNP:

rs1553524865

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

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

18930999

2009

dbSNP:

rs1553524865

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

The spectrum of SCN1A-related infantile epileptic encephalopathies.

17347258

2007