Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
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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 | GeneticVariation | CLINVAR | A catalog of SCN1A variants. | 18804930 | 2009 |
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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 | 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 | A catalog of SCN1A variants. | 18804930 | 2009 |
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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 | The spectrum of SCN1A-related infantile epileptic encephalopathies. | 17347258 | 2007 |
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0.100 | GeneticVariation | CLINVAR | The spectrum of SCN1A-related infantile epileptic encephalopathies. | 17347258 | 2007 |
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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 | 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 | Sodium channel mutations in epilepsy and other neurological disorders. | 16075041 | 2005 |
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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 | De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. | 12754708 | 2003 |
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0.100 | GeneticVariation | CLINVAR | Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). | 12576172 | 2003 |
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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 | Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. | 12083760 | 2002 |
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0.100 | GeneticVariation | CLINVAR | Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. | 11254444 | 2001 |