Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Overgrowth
|
0.700 | CausalMutation | CLINVAR | STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. | 26865513 | 2016 | |||||
Movement Disorders
|
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 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. | 26537360 | 2016 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. | 27184330 | 2016 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. | 27184330 | 2016 | |||||
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 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. | 26514728 | 2015 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Whole-genome sequencing of quartet families with autism spectrum disorder. | 25621899 | 2015 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Whole-genome sequencing of quartet families with autism spectrum disorder. | 25621899 | 2015 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. | 25714420 | 2015 | |||||
Overgrowth
|
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 | Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. | 25914188 | 2015 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. | 24623842 | 2014 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. | 24623842 | 2014 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Dravet syndrome--from epileptic encephalopathy to channelopathy. | 24836964 | 2014 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Dravet syndrome--from epileptic encephalopathy to channelopathy. | 24836964 | 2014 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. | 23409955 | 2013 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. | 23409955 | 2013 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Patterns and rates of exonic de novo mutations in autism spectrum disorders. | 22495311 | 2012 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. | 23020937 | 2012 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. | 22722545 | 2012 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. | 23020937 | 2012 | |||||
Movement Disorders
|
0.700 | CausalMutation | CLINVAR | Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. | 22722545 | 2012 |