DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs1057516098 ×

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:

rs1057516098

KCNQ2

0.700

CausalMutation

CLINVAR

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

27779742

2017

dbSNP:

rs1057516098

KCNQ2

0.700

CausalMutation

CLINVAR

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

24318194

2014

dbSNP:

rs1057516098

KCNQ2

0.700

CausalMutation

CLINVAR

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

23692823

2013

dbSNP:

rs1057516098

KCNQ2

0.700

CausalMutation

CLINVAR

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

23621294

2013

dbSNP:

rs1057516098

KCNQ2

0.700

CausalMutation

CLINVAR

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

22275249

2012