SCN9A, sodium voltage-gated channel alpha subunit 9, 6335
N. diseases: 213; N. variants: 70
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. | 14985375 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. | 15385606 | 2004 | |||||||
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0.800 | GeneticVariation | UNIPROT | SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. | 15955112 | 2005 | |||||||
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0.800 | GeneticVariation | UNIPROT | Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. | 15958509 | 2005 | |||||||
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0.800 | GeneticVariation | UNIPROT | Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy. | 16988069 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. | 16702558 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. | 16392115 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation. | 24311784 | 2014 | |||||||
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0.800 | GeneticVariation | UNIPROT | Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7. | 16216943 | 2005 | |||||||
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0.800 | GeneticVariation | UNIPROT | Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. | 19369487 | 2009 | |||||||
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0.800 | GeneticVariation | UNIPROT | NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders. | 18945915 | 2008 | |||||||
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G | 0.800 | CausalMutation | CLINVAR |