DisGeNET - a database of gene-disease associations

Epileptic Encephalopathy, Early Infantile, 4, C2677326

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:

rs121918317

STXBP1

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

STXBP1

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:

rs121918319

STXBP1

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:

rs121918320

STXBP1

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:

rs587777310

STXBP1

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:

rs121918317

STXBP1

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

STXBP1

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:

rs121918319

STXBP1

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:

rs121918320

STXBP1

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:

rs587777310

STXBP1

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

STXBP1

0.800

GeneticVariation

UNIPROT

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

25714420

2015

dbSNP:

rs121918317

STXBP1

0.800

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs121918318

STXBP1

0.800

GeneticVariation

UNIPROT

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

25714420

2015

dbSNP:

rs121918318

STXBP1

0.800

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs121918319

STXBP1

0.800

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs121918319

STXBP1

0.800

GeneticVariation

UNIPROT

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

25714420

2015

dbSNP:

rs121918320

STXBP1

0.800

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs121918320

STXBP1

0.800

GeneticVariation

UNIPROT

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

25714420

2015

dbSNP:

rs587777310

STXBP1

0.800

GeneticVariation

UNIPROT

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

25818041

2015

dbSNP:

rs587777310

STXBP1

0.800

GeneticVariation

UNIPROT

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

25714420

2015

dbSNP:

rs121918317

STXBP1

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

STXBP1

0.800

GeneticVariation

UNIPROT

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

24623842

2014

dbSNP:

rs121918318

STXBP1

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

STXBP1

0.800

GeneticVariation

UNIPROT

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

24623842

2014

dbSNP:

rs121918319

STXBP1

0.800

GeneticVariation

UNIPROT

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

24623842

2014