rs796053361, STXBP1

N. diseases: 4
Disease: Epileptic Encephalopathy, Early Infantile, 4 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epileptic Encephalopathy, Early Infantile, 4
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
Epileptic Encephalopathy, Early Infantile, 4
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Epileptic Encephalopathy, Early Infantile, 4
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
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
Epileptic Encephalopathy, Early Infantile, 4
CUI: C2677326
Disease: Epileptic Encephalopathy, Early Infantile, 4
0.700 CausalMutation CLINVAR The genetic landscape of infantile spasms. 24781210 2014