DisGeNET - a database of gene-disease associations

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, C3150986

Variant: rs796052623 ×

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:

rs796052623

KCNQ2

0.800

CausalMutation

CLINVAR

A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.

28687180

2018

dbSNP:

rs796052623

KCNQ2

0.800

CausalMutation

CLINVAR

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

28133863

2017

dbSNP:

rs796052623

KCNQ2

0.800

CausalMutation

CLINVAR

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

26993267

2016

dbSNP:

rs796052623

KCNQ2

0.800

CausalMutation

CLINVAR

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

25740509

2015

dbSNP:

rs796052623

KCNQ2

0.800

CausalMutation

CLINVAR

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

24107868

2013

dbSNP:

rs796052623

KCNQ2

0.800

GeneticVariation

UNIPROT