DisGeNET - a database of gene-disease associations

X-linked infantile spasms, C4552072

Variant: rs886041246 ×

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:

rs886041246

STXBP1

0.700

CausalMutation

CLINVAR

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

25714420

2015

dbSNP:

rs886041246

STXBP1

0.700

CausalMutation

CLINVAR

De novo mutations in epileptic encephalopathies.

23934111

2013

dbSNP:

rs886041246

STXBP1

0.700

CausalMutation

CLINVAR

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

21762454

2011

dbSNP:

rs886041246

STXBP1

0.700

CausalMutation

CLINVAR

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.

20887364

2010