DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs773171451 ×

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:

rs773171451

KCNQ2 ; LOC105372724

0.700

CausalMutation

CLINVAR

Early and effective treatment of KCNQ2 encephalopathy.

25880994

2015

dbSNP:

rs773171451

KCNQ2 ; LOC105372724

0.700

CausalMutation

CLINVAR

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

24318194

2014

dbSNP:

rs773171451

KCNQ2 ; LOC105372724

0.700

CausalMutation

CLINVAR

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

22275249

2012