Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder. | 27504264 | 2016 |
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T | 0.700 | 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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T | 0.700 | CausalMutation | CLINVAR | Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. | 23596073 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome. | 23895530 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. | 21698661 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | Sodium-calcium exchanger and multiple sodium channel isoforms in intra-epidermal nerve terminals. | 21118538 | 2010 |
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T | 0.700 | 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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T | 0.700 | CausalMutation | CLINVAR | The diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology. | 18524793 | 2008 |
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T | 0.700 | CausalMutation | CLINVAR | Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). | 17679678 | 2007 |
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T | 0.700 | CausalMutation | CLINVAR | A stop codon mutation in SCN9A causes lack of pain sensation. | 17597096 | 2007 |
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T | 0.700 | 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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T | 0.700 | CausalMutation | CLINVAR | A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. | 16702558 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. | 16392115 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. | 17145499 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | An SCN9A channelopathy causes congenital inability to experience pain. | 17167479 | 2006 |
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T | 0.700 | CausalMutation | CLINVAR | Erythromelalgia: a hereditary pain syndrome enters the molecular era. | 15929046 | 2005 |
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T | 0.700 | CausalMutation | CLINVAR | Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. | 15958509 | 2005 |
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T | 0.700 | CausalMutation | CLINVAR | Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. | 14985375 | 2004 |
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T | 0.700 | CausalMutation | CLINVAR | Small-fiber neuropathy. | 12210380 | 2002 |
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T | 0.700 | CausalMutation | CLINVAR | Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons. | 9037087 | 1997 |
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T | 0.700 | CausalMutation | CLINVAR | Idiopathic distal small fiber neuropathy. | 8610490 | 1995 |