| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.100 | CausalMutation | CLINVAR | Idiopathic distal small fiber neuropathy. | 8610490 | 1995 |
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0.100 | CausalMutation | CLINVAR | Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons. | 9037087 | 1997 |
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0.100 | CausalMutation | CLINVAR | Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. | 9126059 | 1997 |
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0.100 | CausalMutation | CLINVAR | Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. | 10742094 | 2000 |
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0.100 | CausalMutation | CLINVAR | De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. | 11359211 | 2001 |
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0.100 | CausalMutation | CLINVAR | Small-fiber neuropathy. | 12210380 | 2002 |
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0.100 | CausalMutation | CLINVAR | Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. | 14985375 | 2004 |
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0.100 | CausalMutation | CLINVAR | Severe myoclonic epilepsy in infancy: Dravet syndrome. | 15508915 | 2005 |
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0.100 | CausalMutation | CLINVAR | SCN1A mutations and epilepsy. | 15880351 | 2005 |
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0.100 | CausalMutation | CLINVAR | Erythromelalgia: a hereditary pain syndrome enters the molecular era. | 15929046 | 2005 |
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0.100 | CausalMutation | CLINVAR | Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. | 15958509 | 2005 |
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0.100 | CausalMutation | CLINVAR | Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. | 16392115 | 2006 |
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0.100 | CausalMutation | CLINVAR | Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. | 16430863 | 2006 |
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0.100 | CausalMutation | CLINVAR | A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. | 16702558 | 2006 |
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0.100 | CausalMutation | CLINVAR | SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. | 17145499 | 2006 |
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0.100 | CausalMutation | CLINVAR | An SCN9A channelopathy causes congenital inability to experience pain. | 17167479 | 2006 |
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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 | 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 | Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. | 17561957 | 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 | Paroxysmal extreme pain disorder (previously familial rectal pain syndrome). | 17679678 | 2007 |
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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 diagnostic criteria for small fibre neuropathy: from symptoms to neuropathology. | 18524793 | 2008 |
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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 | SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. | 19400878 | 2009 |