DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs118192194 ×

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:

rs118192194

KCNQ2 ; KCNQ2-AS1

0.700

CausalMutation

CLINVAR

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

27602407

2016

dbSNP:

rs118192194

KCNQ2 ; KCNQ2-AS1

0.700

CausalMutation

CLINVAR

Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.

26544041

2015

dbSNP:

rs118192194

KCNQ2 ; KCNQ2-AS1

0.700

CausalMutation

CLINVAR

Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.

16916607

2006