DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs886041262 ×

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:

rs886041262

KCNQ2

0.700

CausalMutation

CLINVAR

KCNQ-SMIT complex formation facilitates ion channel-solute transporter cross talk.

28283543

2017

dbSNP:

rs886041262

KCNQ2

0.700

CausalMutation

CLINVAR

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

26446091

2016

dbSNP:

rs886041262

KCNQ2

0.700

CausalMutation

CLINVAR

Early and effective treatment of KCNQ2 encephalopathy.

25880994

2015

dbSNP:

rs886041262

KCNQ2

0.700

CausalMutation

CLINVAR

KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

24371303

2014

dbSNP:

rs886041262

KCNQ2

0.700

CausalMutation

CLINVAR

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

24107868

2013