| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.360 | Biomarker | group | BEFREE | The meta-regression analysis showed the strongest association of SCN2A with genes involved in schizophrenia and neurodevelopmental disorders. | 31808001 | 2019 | ||||
|
0.360 | GeneticVariation | group | BEFREE | This and other SCN2A mutations associated with the schizophrenia phenotype overlap those seen in neurodevelopmental disorders, suggesting a common underlying mechanism. | 30741786 | 2019 | ||||
|
0.360 | GeneticVariation | group | BEFREE | The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic laboratory and were positive for a pathogenic or likely pathogenic variant in one of nine genes (CDKL5, GABRA1, GABRG2, GRIN2B, KCNQ2, MECP2, PCDH19, SCN1A, or SCN2A). | 28837158 | 2018 | ||||
|
0.360 | Biomarker | group | CTD_human | De novo variants in neurodevelopmental disorders with epilepsy. | 29942082 | 2018 | ||||
|
0.360 | Biomarker | group | BEFREE | The well-defined function of sodium channels makes SCN2A an important test case for investigating the neurobiology of neurodevelopmental disorders more generally. | 29691040 | 2018 | ||||
|
0.360 | GeneticVariation | group | BEFREE | Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. | 28379373 | 2017 | ||||
|
0.360 | GeneticVariation | group | BEFREE | Two genes (KLF16 and MSANTD2) were significantly enriched for PZMs genome-wide, and other PZMs involved genes (SCN2A, HNRNPU and SMARCA4) whose mutation is known to cause ASD or other neurodevelopmental disorders. | 28714951 | 2017 | ||||
|
0.360 | Biomarker | group | CTD_human | Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. | 28191889 | 2017 |