STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554776954
rs1554776954
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0233514
Disease:
Abnormal behavior 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1564351388
rs1564351388
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0520966
Disease:
Abnormal coordination 		CT 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs796053356
rs796053356
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0004352
Disease:
Autistic Disorder 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs794727970
rs794727970
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C1840379
Disease:
Cerebellar vermis hypoplasia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs794727792
rs794727792
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0454644
Disease:
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918321
rs121918321
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE We identified de novo mutations in STXBP1 (nonsense, p.R388X; splicing, c.169+1G>A) in two patients with severe mental retardation and nonsyndromic epilepsy. 19557857 2009
dbSNP: rs1057518985
rs1057518985
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease:
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519537
rs1057519537
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease:
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519538
rs1057519538
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease:
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519539
rs1057519539
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease:
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs796053366
rs796053366
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease:
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs796053367
rs796053367
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease:
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554778417
rs1554778417
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		G 0.700 GeneticVariation CLINVAR STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. 20887364 2010
dbSNP: rs1554778417
rs1554778417
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		G 0.700 GeneticVariation CLINVAR Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. 26384463 2016
dbSNP: rs1564333757
rs1564333757
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		AGCTGTTGTCGG 0.700 CausalMutation CLINVAR
dbSNP: rs1564349850
rs1564349850
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1564351103
rs1564351103
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		T 0.700 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
dbSNP: rs1564352002
rs1564352002
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		T 0.700 CausalMutation CLINVAR
dbSNP: rs786205598
rs786205598
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		T 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
dbSNP: rs786205598
rs786205598
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		T 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs786205598
rs786205598
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4014430
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		T 0.700 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs121918317
rs121918317
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		0.800 GeneticVariation UNIPROT De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812 2008
dbSNP: rs121918317
rs121918317
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		0.800 GeneticVariation UNIPROT STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. 20887364 2010
dbSNP: rs121918317
rs121918317
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
dbSNP: rs121918317
rs121918317
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016