DisGeNET - a database of gene-disease associations

Muscle hypotonia, C0026827

Gene: KCNQ2 ×

Source: INFERRED ×

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:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

29129156

2017

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

28602030

2017

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

27861786

2017

dbSNP:

rs797044938

KCNQ2

0.700

GeneticVariation

CLINVAR

Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

27861786

2017

dbSNP:

rs797044938

KCNQ2

0.700

GeneticVariation

CLINVAR

Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

28602030

2017

dbSNP:

rs797044938

KCNQ2

0.700

GeneticVariation

CLINVAR

A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

29129156

2017

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

27602407

2016

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

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

26993267

2016

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

26795593

2016

dbSNP:

rs797044938

KCNQ2

0.700

GeneticVariation

CLINVAR

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

26993267

2016

dbSNP:

rs797044938

KCNQ2

0.700

GeneticVariation

CLINVAR

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

27602407

2016

dbSNP:

rs797044938

KCNQ2

0.700

GeneticVariation

CLINVAR

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

26795593

2016

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

25982755

2015

dbSNP:

rs797044938

KCNQ2

0.700

GeneticVariation

CLINVAR

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

25982755

2015

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

24318194

2014

dbSNP:

rs797044938

KCNQ2

0.700

GeneticVariation

CLINVAR

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

24318194

2014

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

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

24107868

2013

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

23621294

2013

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

23849776

2013

dbSNP:

rs797044938

KCNQ2

0.700

GeneticVariation

CLINVAR

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

23849776

2013

dbSNP:

rs797044938

KCNQ2

0.700

GeneticVariation

CLINVAR

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

23621294

2013

dbSNP:

rs797044938

KCNQ2

0.700

GeneticVariation

CLINVAR

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

24107868

2013

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

22169383

2012

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

22275249

2012

dbSNP:

rs1555873985

KCNQ2 ; KCNQ2-AS1

0.700

GeneticVariation

CLINVAR

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

22926866

2012