DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs121918788 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918788

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.

28079314

2017

dbSNP:

rs121918788

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

Audit of use of stiripentol in adults with Dravet syndrome.

27231140

2017

dbSNP:

rs121918788

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

UniProt: a hub for protein information.

25348405

2015

dbSNP:

rs121918788

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

Lamotrigine can be beneficial in patients with Dravet syndrome.

25243660

2015

dbSNP:

rs121918788

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

A catalog of SCN1A variants.

18804930

2009

dbSNP:

rs121918788

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

A screening test for the prediction of Dravet syndrome before one year of age.

18076640

2008

dbSNP:

rs121918788

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

12083760

2002