STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Epileptic Encephalopathy, Early Infantile, 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041246
rs886041246
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		A 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs886041246
rs886041246
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		A 0.700 CausalMutation CLINVAR A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420 2015
dbSNP: rs886041246
rs886041246
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		A 0.700 CausalMutation CLINVAR Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 26514728 2015
dbSNP: rs886041246
rs886041246
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		A 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs886041246
rs886041246
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		A 0.700 CausalMutation CLINVAR STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. 21762454 2011
dbSNP: rs886041246
rs886041246
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		A 0.700 CausalMutation CLINVAR STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. 20887364 2010