STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 26514728 2015
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Whole-genome sequencing of quartet families with autism spectrum disorder. 25621899 2015
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 25914188 2015
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420 2015
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964 2014
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842 2014
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. 23409955 2013
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311 2012
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. 22722545 2012
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. 21770924 2011
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. 21762454 2011
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Paternal mosaicism of an STXBP1 mutation in OS. 21062273 2011
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Intellectual disability without epilepsy associated with STXBP1 disruption. 21364700 2011
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. 20887364 2010
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. 21204804 2010
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. 20876469 2010
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 20196795 2010
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 19557857 2009
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812 2008
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Munc18-1 binds directly to the neuronal SNARE complex. 17301226 2007
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.100 CausalMutation phenotype CLINVAR Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. 16829045 2006