DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs1057516085 ×

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:

rs1057516085

KCNQ2

0.700

CausalMutation

CLINVAR

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.

28139826

2017

dbSNP:

rs1057516085

KCNQ2

0.700

CausalMutation

CLINVAR

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

28867141

2017

dbSNP:

rs1057516085

KCNQ2

0.700

CausalMutation

CLINVAR

Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

27535030

2017

dbSNP:

rs1057516085

KCNQ2

0.700

CausalMutation

CLINVAR

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.

29190809

2017

dbSNP:

rs1057516085

KCNQ2

0.700

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:

rs1057516085

KCNQ2

0.700

CausalMutation

CLINVAR

Early and effective treatment of KCNQ2 encephalopathy.

25880994

2015

dbSNP:

rs1057516085

KCNQ2

0.700

CausalMutation

CLINVAR

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

23708187

2013