DisGeNET - a database of gene-disease associations

STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918317

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

18469812

2008

dbSNP:

rs121918317

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

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

20887364

2010

dbSNP:

rs121918317

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

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

23708187

2013

dbSNP:

rs121918317

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

26993267

2016

dbSNP:

rs121918317

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs121918317

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.

24170257

2014

dbSNP:

rs121918317

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

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

25714420

2015

dbSNP:

rs121918317

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

24623842

2014

dbSNP:

rs121918317

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs121918317

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

21770924

2011

dbSNP:

rs121918317

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

23662938

2013

dbSNP:

rs121918317

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs121918318

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

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

25714420

2015

dbSNP:

rs121918318

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

18469812

2008

dbSNP:

rs121918318

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

27864847

2017

dbSNP:

rs121918318

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

26993267

2016

dbSNP:

rs121918318

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

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

20887364

2010

dbSNP:

rs121918318

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs121918318

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.

24170257

2014

dbSNP:

rs121918318

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

21770924

2011

dbSNP:

rs121918318

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

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

23708187

2013

dbSNP:

rs121918318

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

23662938

2013

dbSNP:

rs121918318

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs121918318

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

24623842

2014

dbSNP:

rs121918319

Entrez Id:	6812
Gene Symbol:	STXBP1

STXBP1

CUI:	C2677326
Disease:

Epileptic Encephalopathy, Early Infantile, 4

0.800

GeneticVariation

UNIPROT

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

24623842

2014