Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.110 CausalMutation group CLINVAR Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 26514728 2015
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.110 CausalMutation group CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360 2016
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.110 CausalMutation group CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.110 CausalMutation group CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016