STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Movement Disorders ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
dbSNP: rs1554777375
rs1554777375
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		TA 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
dbSNP: rs1554777375
rs1554777375
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		TA 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs1554777375
rs1554777375
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		TA 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
dbSNP: rs1554777919
rs1554777919
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs1554777919
rs1554777919
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
dbSNP: rs1554777919
rs1554777919
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
dbSNP: rs1554778941
rs1554778941
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs1554778941
rs1554778941
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
dbSNP: rs1554778941
rs1554778941
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
dbSNP: rs767199598
rs767199598
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
dbSNP: rs767199598
rs767199598
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
dbSNP: rs767199598
rs767199598
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs796053361
rs796053361
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
dbSNP: rs796053361
rs796053361
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs796053361
rs796053361
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 26514728 2015
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Whole-genome sequencing of quartet families with autism spectrum disorder. 25621899 2015
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 25914188 2015
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420 2015
dbSNP: rs1554777375
rs1554777375
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		TA 0.700 CausalMutation CLINVAR Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 25914188 2015
dbSNP: rs1554777375
rs1554777375
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		TA 0.700 CausalMutation CLINVAR Whole-genome sequencing of quartet families with autism spectrum disorder. 25621899 2015
dbSNP: rs1554777375
rs1554777375
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		TA 0.700 CausalMutation CLINVAR Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 26514728 2015