Disease: Primary Erythermalgia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356476
rs80356476
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		0.810 GeneticVariation UNIPROT Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation. 24311784 2014
dbSNP: rs80356476
rs80356476
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		0.810 GeneticVariation BEFREE Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels. 24866741 2014
dbSNP: rs80356476
rs80356476
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		0.810 GeneticVariation UNIPROT Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. 19369487 2009
dbSNP: rs80356476
rs80356476
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		0.810 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
dbSNP: rs80356476
rs80356476
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		0.810 GeneticVariation UNIPROT Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. 16392115 2006
dbSNP: rs80356476
rs80356476
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		0.810 GeneticVariation UNIPROT Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy. 16988069 2006
dbSNP: rs80356476
rs80356476
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		0.810 GeneticVariation UNIPROT A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. 16702558 2006
dbSNP: rs80356476
rs80356476
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		0.810 GeneticVariation UNIPROT Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. 15958509 2005
dbSNP: rs80356476
rs80356476
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		0.810 GeneticVariation UNIPROT Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7. 16216943 2005
dbSNP: rs80356476
rs80356476
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		0.810 GeneticVariation UNIPROT SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. 15955112 2005
dbSNP: rs80356476
rs80356476
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		0.810 GeneticVariation UNIPROT Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. 15385606 2004
dbSNP: rs80356476
rs80356476
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		0.810 GeneticVariation UNIPROT Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. 14985375 2004
dbSNP: rs80356476
rs80356476
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		A 0.810 CausalMutation CLINVAR