| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.100 | CausalMutation | CLINVAR | Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli. | 27413160 | 2016 |
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0.100 | CausalMutation | CLINVAR | Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder. | 27504264 | 2016 |
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0.100 | CausalMutation | CLINVAR | Dravet syndrome--from epileptic encephalopathy to channelopathy. | 24836964 | 2014 |
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0.100 | CausalMutation | CLINVAR | Structure and function of voltage-gated sodium channels at atomic resolution. | 24097157 | 2014 |
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0.100 | CausalMutation | CLINVAR | Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. | 23596073 | 2013 |
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0.100 | CausalMutation | CLINVAR | Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. | 23895530 | 2013 |
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0.100 | CausalMutation | CLINVAR | Progressive gait deterioration in adolescents with Dravet syndrome. | 22409937 | 2012 |
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0.100 | CausalMutation | CLINVAR | Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. | 22719002 | 2012 |
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0.100 | CausalMutation | CLINVAR | Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. | 21698661 | 2012 |
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0.100 | CausalMutation | CLINVAR | Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. | 21463290 | 2011 |
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0.100 | CausalMutation | CLINVAR | Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. | 21269283 | 2011 |
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0.100 | CausalMutation | CLINVAR | Genotype-phenotype associations in SCN1A-related epilepsies. | 21248271 | 2011 |
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0.100 | CausalMutation | CLINVAR | Sodium-calcium exchanger and multiple sodium channel isoforms in intra-epidermal nerve terminals. | 21118538 | 2010 |
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0.100 | CausalMutation | CLINVAR | Timing of de novo mutagenesis--a twin study of sodium-channel mutations. | 20879882 | 2010 |
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0.100 | CausalMutation | CLINVAR | A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. | 19763161 | 2009 |
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0.100 | CausalMutation | CLINVAR | SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. | 19400878 | 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 | CausalMutation | CLINVAR | The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology. | 18524793 | 2008 |
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0.100 | CausalMutation | CLINVAR | Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. | 18413471 | 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 | CausalMutation | CLINVAR | A stop codon mutation in SCN9A causes lack of pain sensation. | 17597096 | 2007 |
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0.100 | CausalMutation | CLINVAR | Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. | 17561957 | 2007 |
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0.100 | CausalMutation | CLINVAR | Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. | 17470132 | 2007 |
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0.100 | CausalMutation | CLINVAR | Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). | 17679678 | 2007 |
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0.100 | CausalMutation | CLINVAR | Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. | 16392115 | 2006 |