rs796053361, STXBP1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 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
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. 27779742 2017
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. 21204804 2010
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420 2015
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. 16829045 2006
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 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
Epileptic Encephalopathy, Early Infantile, 4
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
0.700 CausalMutation CLINVAR The genetic landscape of infantile spasms. 24781210 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. 16829045 2006
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Munc18-1 binds directly to the neuronal SNARE complex. 17301226 2007
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 19557857 2009
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Whole-genome sequencing of quartet families with autism spectrum disorder. 25621899 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842 2014
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. 21770924 2011
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
0.700 CausalMutation CLINVAR The genetic landscape of infantile spasms. 24781210 2014
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812 2008
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Intellectual disability without epilepsy associated with STXBP1 disruption. 21364700 2011
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR A new paradigm for West syndrome based on molecular and cell biology. 16806828 2006
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release. 9545644 1998