| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.100 | GeneticVariation | CLINVAR | A catalog of SCN1A variants. | 18804930 | 2009 |
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0.100 | CausalMutation | CLINVAR | Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family. | 20562086 | 2010 |
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0.100 | CausalMutation | CLINVAR | Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. | 16541393 | 2006 |
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0.100 | CausalMutation | CLINVAR | Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. | 18930999 | 2009 |
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0.100 | CausalMutation | CLINVAR | The spectrum of SCN1A-related infantile epileptic encephalopathies. | 17347258 | 2007 |
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0.100 | CausalMutation | CLINVAR | Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. | 23762420 | 2013 |
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0.100 | CausalMutation | CLINVAR | Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. | 17054684 | 2006 |
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0.100 | GeneticVariation | CLINVAR | Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1. | 20550552 | 2010 |
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0.100 | GeneticVariation | CLINVAR | Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. | 18930999 | 2009 |
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0.100 | CausalMutation | CLINVAR | SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome. | 28079314 | 2017 |
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0.100 | CausalMutation | CLINVAR | Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). | 14738421 | 2004 |
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0.100 | CausalMutation | CLINVAR | Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. | 27781031 | 2016 |
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0.100 | CausalMutation | CLINVAR | De novo mutations in epileptic encephalopathies. | 23934111 | 2013 |
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0.100 | GeneticVariation | CLINVAR | Sodium channel mutations in epilepsy and other neurological disorders. | 16075041 | 2005 |
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0.100 | CausalMutation | CLINVAR | Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. | 11940708 | 2002 |
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0.100 | CausalMutation | CLINVAR | A screening test for the prediction of Dravet syndrome before one year of age. | 18076640 | 2008 |
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0.100 | CausalMutation | CLINVAR | Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. | 20522430 | 2010 |
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0.100 | CausalMutation | CLINVAR | Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. | 22848613 | 2012 |
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0.100 | GeneticVariation | CLINVAR | The spectrum of SCN1A-related infantile epileptic encephalopathies. | 17347258 | 2007 |
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0.100 | GeneticVariation | CLINVAR | UniProt: a hub for protein information. | 25348405 | 2015 |
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0.100 | GeneticVariation | CLINVAR | Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome. | 28012175 | 2017 |
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0.100 | CausalMutation | CLINVAR | "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome." | 26096185 | 2015 |
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0.100 | CausalMutation | CLINVAR | Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. | 22780858 | 2012 |
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0.100 | CausalMutation | CLINVAR | Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. | 12083760 | 2002 |
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0.100 | CausalMutation | CLINVAR | Genotype-phenotype associations in SCN1A-related epilepsies. | 21248271 | 2011 |