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: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		0.710 CausalMutation disease CLINVAR Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		0.710 CausalMutation disease CLINVAR STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. 21762454 2011
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		0.710 GeneticVariation disease UNIPROT Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. 21770924 2011
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		0.710 CausalMutation disease CLINVAR Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. 21770924 2011
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		0.710 CausalMutation disease CLINVAR STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. 20887364 2010
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		0.710 GeneticVariation disease UNIPROT STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. 20887364 2010
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		0.710 Biomarker disease GENOMICS_ENGLAND De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 19557857 2009
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		0.710 CausalMutation disease CLINVAR De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 19557857 2009
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		0.710 GeneticVariation disease UNIPROT De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812 2008
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		0.710 Biomarker disease CTD_human
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 4 		0.710 GeneticVariation disease CLINVAR
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.530 GeneticVariation disease BEFREE The STXBP1 mutation in patients with Dravet Syndrome may additionally causes several parkinsonian features usually attributed to carriers of the SCN1A mutation. 29929108 2018
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.530 GeneticVariation disease BEFREE STXBP1 gene variants have been identified in patients with many different types of epilepsy, including Dravet syndrome and epileptic encephalopathies, suggesting STX1B plays a similar role. 26818399 2016
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.530 GermlineCausalMutation disease ORPHANET We show that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded. 24623842 2014
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.530 Biomarker disease BEFREE We show that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded. 24623842 2014
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.530 Biomarker disease CTD_human De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812 2008
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.490 GeneticVariation disease BEFREE Here, we performed WES on four trios with West syndrome and identified three loss-of-function DNMs in both CSNK1E (c.885+1G>A) and STXBP1 (splicing, c.1111-2A>G; nonsense, p.(Y519X)). 30488659 2019
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.490 GeneticVariation disease BEFREE According to epilepsy syndromes, the diagnostic yield was the highest among patients with West syndrome (WS) with a history of neonatal seizures and mutations in KCNQ2 and STXBP1 were most frequently identified. 29455050 2018
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.490 GeneticVariation disease BEFREE STXBP1 mutations were the main findings in patients with West syndrome. 29314583 2018
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.490 GermlineCausalMutation disease ORPHANET In the present study, we performed genetic screening of 73 patients with different types of ISs by array-CGH and molecular analysis of 5 genes: CDKL5, STXBP1, KCNQ2, and GRIN2A, whose mutations cause different types of epileptic encephalopathies, including ISs, as well as MAGI2, which was suggested to be related to a subset of ISs. 25497044 2015
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.490 GeneticVariation disease BEFREE Mutations of the syntaxin binding protein 1 (STXBP1) have been associated with severe infantile epileptic encephalopathies (Ohtahara syndrome and West syndrome), but also with moderate to severe cognitive impairment and nonsyndromic epilepsy. 22596016 2012
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.490 GermlineCausalMutation disease ORPHANET STXBP1-related encephalopathy may present as drug-responsive infantile spasms with focal/lateralized discharges. 21762454 2011
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.490 Biomarker disease BEFREE STXBP1-related encephalopathy may present as drug-responsive infantile spasms with focal/lateralized discharges. 21762454 2011
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.490 GeneticVariation disease BEFREE A de novo 9q33.3-q34.11 microdeletion involving STXBP1 has been found in one of four individuals (group A) with early-onset West syndrome, severe hypomyelination, poor visual attention, and developmental delay. 20493457 2010