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: rs1461664423
rs1461664423
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0024312
Disease:
Lymphopenia 		0.010 GeneticVariation BEFREE We identified 3 patients with de novo RAC2[E62K] mutations resulting in severe T- and B-cell lymphopenia, myeloid dysfunction, and recurrent respiratory infections. 30723080 2019
dbSNP: rs1461664423
rs1461664423
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0035243
Disease:
Respiratory Tract Infections 		0.010 GeneticVariation BEFREE We identified 3 patients with de novo RAC2[E62K] mutations resulting in severe T- and B-cell lymphopenia, myeloid dysfunction, and recurrent respiratory infections. 30723080 2019
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: rs10819303
rs10819303
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs796053361
rs796053361
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4552072
Disease:
X-linked infantile spasms 		A 0.700 CausalMutation CLINVAR Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. 27779742 2017
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
dbSNP: rs1554777375
rs1554777375
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		TA 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
dbSNP: rs1554777375
rs1554777375
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026827
Disease:
Muscle hypotonia 		TA 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
dbSNP: rs1554777375
rs1554777375
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		TA 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs1554777375
rs1554777375
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		TA 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
dbSNP: rs1554777375
rs1554777375
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026827
Disease:
Muscle hypotonia 		TA 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
dbSNP: rs1554777375
rs1554777375
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026827
Disease:
Muscle hypotonia 		TA 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs1554777919
rs1554777919
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C1849265
Disease:
Overgrowth 		T 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs1554777919
rs1554777919
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs1554777919
rs1554777919
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
dbSNP: rs1554777919
rs1554777919
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C1849265
Disease:
Overgrowth 		T 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
dbSNP: rs1554777919
rs1554777919
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
dbSNP: rs1554777919
rs1554777919
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C1849265
Disease:
Overgrowth 		T 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
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: rs1554778941
rs1554778941
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs1554778941
rs1554778941
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
dbSNP: rs1554778941
rs1554778941
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs1554778941
rs1554778941
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016