| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Primary Erythermalgia
|
0.800 | GeneticVariation | UNIPROT | Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation. | 24311784 | 2014 | |||||
Primary Erythermalgia
|
0.800 | GeneticVariation | UNIPROT | Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. | 19369487 | 2009 | |||||
Primary Erythermalgia
|
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 | |||||
Primary Erythermalgia
|
0.800 | GeneticVariation | UNIPROT | Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy. | 16988069 | 2006 | |||||
Primary Erythermalgia
|
0.800 | GeneticVariation | UNIPROT | A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. | 16702558 | 2006 | |||||
Primary Erythermalgia
|
0.800 | GeneticVariation | UNIPROT | Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. | 16392115 | 2006 | |||||
Primary Erythermalgia
|
0.800 | GeneticVariation | UNIPROT | SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. | 15955112 | 2005 | |||||
Primary Erythermalgia
|
0.800 | GeneticVariation | UNIPROT | Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. | 15958509 | 2005 | |||||
Primary Erythermalgia
|
0.800 | GeneticVariation | UNIPROT | Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7. | 16216943 | 2005 | |||||
Primary Erythermalgia
|
0.800 | GeneticVariation | UNIPROT | Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. | 14985375 | 2004 | |||||
Primary Erythermalgia
|
0.800 | GeneticVariation | UNIPROT | Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. | 15385606 | 2004 | |||||
Primary Erythermalgia
|
0.800 | CausalMutation | CLINVAR | ||||||||
Abnormality of pain sensation
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Acute episodes of neuropathic symptoms
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Familial (FPAH)
|
0.010 | GeneticVariation | BEFREE | Topologically, I136V is located in DI/S1 segment and both I848T and V1316A are located in S4-S5 linker region of DII and DIII domains, respectively. | 23383113 | 2013 |