rs1554777375
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
TA |
0.700 |
CausalMutation |
CLINVAR |
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
|
25714420 |
2015 |
rs1554777919
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
|
25714420 |
2015 |
rs1554777919
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
|
26514728 |
2015 |
rs1554777919
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Whole-genome sequencing of quartet families with autism spectrum disorder.
|
25621899 |
2015 |
rs1554777919
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
|
25914188 |
2015 |
rs1554778941
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
|
25914188 |
2015 |
rs1554778941
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Whole-genome sequencing of quartet families with autism spectrum disorder.
|
25621899 |
2015 |
rs1554778941
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
|
26514728 |
2015 |
rs1554778941
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
|
25714420 |
2015 |
rs767199598
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
|
26514728 |
2015 |
rs767199598
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
|
25914188 |
2015 |
rs767199598
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
|
25714420 |
2015 |
rs767199598
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole-genome sequencing of quartet families with autism spectrum disorder.
|
25621899 |
2015 |
rs796053361
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole-genome sequencing of quartet families with autism spectrum disorder.
|
25621899 |
2015 |
rs796053361
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
|
25714420 |
2015 |
rs796053361
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
|
26514728 |
2015 |
rs796053361
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
|
25914188 |
2015 |
rs1554776842
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
|
24623842 |
2014 |
rs1554776842
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dravet syndrome--from epileptic encephalopathy to channelopathy.
|
24836964 |
2014 |
rs1554777375
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
TA |
0.700 |
CausalMutation |
CLINVAR |
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
|
24623842 |
2014 |
rs1554777375
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
TA |
0.700 |
CausalMutation |
CLINVAR |
Dravet syndrome--from epileptic encephalopathy to channelopathy.
|
24836964 |
2014 |
rs1554777919
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
|
24623842 |
2014 |
rs1554777919
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Dravet syndrome--from epileptic encephalopathy to channelopathy.
|
24836964 |
2014 |
rs1554778941
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
|
24623842 |
2014 |
rs1554778941
|
Entrez Id: |
6812 |
Gene Symbol: |
STXBP1 |
STXBP1
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Dravet syndrome--from epileptic encephalopathy to channelopathy.
|
24836964 |
2014 |