DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs794727740 ×

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:

rs794727740

KCNQ2

0.700

CausalMutation

CLINVAR

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

27535030

2017

dbSNP:

rs794727740

KCNQ2

0.700

CausalMutation

CLINVAR

Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.

27779742

2017

dbSNP:

rs794727740

KCNQ2

0.700

CausalMutation

CLINVAR

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

27602407

2016

dbSNP:

rs794727740

KCNQ2

0.700

CausalMutation

CLINVAR

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

23692823

2013

dbSNP:

rs794727740

KCNQ2

0.700

CausalMutation

CLINVAR

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

22275249

2012

dbSNP:

rs794727740

KCNQ2

0.700

CausalMutation

CLINVAR

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

22926866

2012