Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360

2016

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330

2016

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513

2016

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 26514728

2016

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 25914188

2016

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Whole-genome sequencing of quartet families with autism spectrum disorder. 25621899

2015

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420

2015

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964

2014

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842

2014

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. 23409955

2013

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. 22722545

2013

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937

2012

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311

2012

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Paternal mosaicism of an STXBP1 mutation in OS. 21062273

2012

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. 20887364

2011

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Intellectual disability without epilepsy associated with STXBP1 disruption. 21364700

2011

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. 21762454

2011

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. 21770924

2011

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. 21204804

2011

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. 20876469

2010

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 20196795

2010

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 19557857

2009

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812

2008

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR Munc18-1 binds directly to the neuronal SNARE complex. 17301226

2007

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
0.100 CausalMutation CLINVAR A new paradigm for West syndrome based on molecular and cell biology. 16806828

2006