DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs121917953 ×

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:

rs121917953

SCN1A ; SCN1A-AS1

0.700

GeneticVariation

CLINVAR

UniProt: a hub for protein information.

25348405

2015

dbSNP:

rs121917953

SCN1A ; SCN1A-AS1

0.700

GeneticVariation

CLINVAR

Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.

22780858

2012

dbSNP:

rs121917953

SCN1A ; SCN1A-AS1

0.700

GeneticVariation

CLINVAR

Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.

20550552

2010

dbSNP:

rs121917953

SCN1A ; SCN1A-AS1

0.700

GeneticVariation

CLINVAR

A catalog of SCN1A variants.

18804930

2009

dbSNP:

rs121917953

SCN1A ; SCN1A-AS1

0.700

GeneticVariation

CLINVAR

Sodium channel mutations in epilepsy and other neurological disorders.

16075041

2005

dbSNP:

rs121917953

SCN1A ; SCN1A-AS1

0.700

GeneticVariation

CLINVAR

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).

12576172

2003

dbSNP:

rs121917953

SCN1A ; SCN1A-AS1

0.700

GeneticVariation

CLINVAR

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

11254444

2001