| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
X-linked infantile spasms
|
0.700 | CausalMutation | CLINVAR | Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. | 27779742 | 2017 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. | 27184330 | 2016 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. | 26537360 | 2016 | |||||
X-linked infantile spasms
|
0.700 | CausalMutation | CLINVAR | STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. | 26865513 | 2016 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. | 26537360 | 2016 | |||||
Epileptic Encephalopathy, Early Infantile, 4
|
0.700 | CausalMutation | CLINVAR | STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. | 26865513 | 2016 | |||||
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 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. | 26865513 | 2016 | |||||
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 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. | 26865513 | 2016 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. | 27184330 | 2016 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. | 25714420 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Whole-genome sequencing of quartet families with autism spectrum disorder. | 25621899 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. | 25714420 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. | 26514728 | 2015 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. | 25914188 | 2015 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. | 26514728 | 2015 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Whole-genome sequencing of quartet families with autism spectrum disorder. | 25621899 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. | 25914188 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Dravet syndrome--from epileptic encephalopathy to channelopathy. | 24836964 | 2014 | |||||
Epileptic Encephalopathy, Early Infantile, 4
|
0.700 | CausalMutation | CLINVAR | The genetic landscape of infantile spasms. | 24781210 | 2014 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. | 24623842 | 2014 | |||||
X-linked infantile spasms
|
0.700 | CausalMutation | CLINVAR | The genetic landscape of infantile spasms. | 24781210 | 2014 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Dravet syndrome--from epileptic encephalopathy to channelopathy. | 24836964 | 2014 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. | 24623842 | 2014 |