DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs121917984 ×

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:

rs121917984

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

25401298

2015

dbSNP:

rs121917984

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

UniProt: a hub for protein information.

25348405

2015

dbSNP:

rs121917984

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

23895530

2013

dbSNP:

rs121917984

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

A catalog of SCN1A variants.

18804930

2009

dbSNP:

rs121917984

SCN1A ; SCN1A-AS1

0.700

CausalMutation

CLINVAR

The spectrum of SCN1A-related infantile epileptic encephalopathies.

17347258

2007