DisGeNET - a database of gene-disease associations

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, C3150986

Gene: KCNQ2 ×

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:

rs1057516091

KCNQ2

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs1057516094

KCNQ2

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs1057516095

KCNQ2

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs1057516099

KCNQ2

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs118192211

KCNQ2

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs267607198

KCNQ2 ; LOC105372724

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs397514581

KCNQ2

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs74315392

KCNQ2

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs796052623

KCNQ2

0.800

CausalMutation

CLINVAR

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

28133863

2017

dbSNP:

rs1057516091

KCNQ2

0.800

GeneticVariation

UNIPROT

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

26993267

2016

dbSNP:

rs1057516091

KCNQ2

0.800

GeneticVariation

UNIPROT

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

26138355

2016

dbSNP:

rs1057516094

KCNQ2

0.800

GeneticVariation

UNIPROT

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

26138355

2016

dbSNP:

rs1057516094

KCNQ2

0.800

GeneticVariation

UNIPROT

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

26993267

2016

dbSNP:

rs1057516095

KCNQ2

0.800

GeneticVariation

UNIPROT

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

26138355

2016

dbSNP:

rs1057516095

KCNQ2

0.800

GeneticVariation

UNIPROT

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

26993267

2016

dbSNP:

rs1057516099

KCNQ2

0.800

GeneticVariation

UNIPROT

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

26993267

2016

dbSNP:

rs1057516099

KCNQ2

0.800

GeneticVariation

UNIPROT

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

26138355

2016

dbSNP:

rs118192211

KCNQ2

0.800

GeneticVariation

UNIPROT

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

26993267

2016

dbSNP:

rs118192211

KCNQ2

0.800

GeneticVariation

UNIPROT

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

26138355

2016

dbSNP:

rs267607198

KCNQ2 ; LOC105372724

0.800

GeneticVariation

UNIPROT

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

26138355

2016

dbSNP:

rs267607198

KCNQ2 ; LOC105372724

0.800

GeneticVariation

UNIPROT

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

26993267

2016

dbSNP:

rs397514581

KCNQ2

0.800

GeneticVariation

UNIPROT

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

26993267

2016

dbSNP:

rs397514581

KCNQ2

0.800

GeneticVariation

UNIPROT

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

26138355

2016

dbSNP:

rs74315392

KCNQ2

0.800

GeneticVariation

UNIPROT

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

26993267

2016