rs1057518985
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Epileptic encephalopathy
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057519501
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Epileptic Encephalopathy, Early Infantile, 4
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519537
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Epileptic encephalopathy
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519538
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Epileptic encephalopathy
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519539
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Epileptic encephalopathy
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057522982
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
X-linked infantile spasms
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060501722
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
X-linked infantile spasms
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060501723
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
X-linked infantile spasms
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1060501724
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
X-linked infantile spasms
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs10819303
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
mathematical ability
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
|
30038396 |
2018 |
rs121918317
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
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 |
rs121918317
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Epileptic Encephalopathy, Early Infantile, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
|
20887364 |
2010 |
rs121918317
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Epileptic Encephalopathy, Early Infantile, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
rs121918317
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
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 |
rs121918317
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Epileptic Encephalopathy, Early Infantile, 4
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121918317
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
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 |
rs121918317
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
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 |
rs121918317
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Epileptic Encephalopathy, Early Infantile, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
|
24623842 |
2014 |
rs121918317
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Epileptic Encephalopathy, Early Infantile, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
rs121918317
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
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 |
rs121918317
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Epileptic Encephalopathy, Early Infantile, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
|
23662938 |
2013 |
rs121918317
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
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 |
rs121918318
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
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 |
rs121918318
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
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 |
rs121918318
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
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 |