Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.370 | Biomarker | group | BEFREE | Participants were 14 individuals with STXBP1-associated neurodevelopmental disorder, ascertained from clinical genetics and neurology services UK-wide. | 31387522 | 2019 | ||||
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0.370 | GeneticVariation | group | BEFREE | STXBP1 mutations cause early infantile epileptic encephalopathy (EIEE), various intractable epilepsies, and neurodevelopmental disorders. | 29544889 | 2018 | ||||
|
0.370 | Biomarker | group | CTD_human | De novo variants in neurodevelopmental disorders with epilepsy. | 29942082 | 2018 | ||||
|
0.370 | GeneticVariation | group | BEFREE | Disruption of Munc18-1 function may result in the abnormal corticogenesis, leading to neurodevelopmental disorders with MUNC18-1 gene abnormalities. | 29191246 | 2017 | ||||
|
0.370 | Biomarker | group | BEFREE | Mutations in STXBP1 have been associated with a series of (epileptic) neurodevelopmental disorders collectively referred to as STXBP1-encephalopathy (STXBP1-E). | 28971703 | 2017 | ||||
|
0.370 | Biomarker | group | CTD_human | Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. | 28191889 | 2017 | ||||
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0.370 | Biomarker | group | BEFREE | Mutations in the synaptic machinery gene syntaxin-binding protein 1, STXBP1 (also known as MUNC18-1), are linked to childhood epilepsies and other neurodevelopmental disorders. | 26963117 | 2016 | ||||
|
0.370 | GeneticVariation | group | BEFREE | Variants in genes previously implicated in neurodevelopmental disorders (NDD) were identified in six patients (32%): de novo variants in EEF1A2, STXBP1 and ZNF238 were found in three patients, maternally inherited X linked variants in SLC35A2, ZFX and SHROOM4 were detected in two male patients and one homozygous variant in EIF2B2 was detected in one patient. | 26740508 | 2016 | ||||
|
0.370 | Biomarker | group | BEFREE | STXBP1-E may be conceptualized as a complex neurodevelopmental disorder rather than a primary epileptic encephalopathy. | 26865513 | 2016 |