DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs796053355 ×

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:

rs796053355

STXBP1

0.700

CausalMutation

CLINVAR

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

26544041

2015

dbSNP:

rs796053355

STXBP1

0.700

CausalMutation

CLINVAR

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

26514728

2015

dbSNP:

rs796053355

STXBP1

0.700

CausalMutation

CLINVAR

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

23708187

2013

dbSNP:

rs796053355

STXBP1

0.700

CausalMutation

CLINVAR

De novo mutations in epileptic encephalopathies.

23934111

2013