Disease: Primary Erythermalgia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease BEFREE To identify the mutation of SCN9A in a Chinese Han family with typical symptoms of PE and study the electrophysiological effect of the identified mutation. 28990532 2017
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 Biomarker disease GENOMICS_ENGLAND Small fibre neuropathy. 28665811 2017
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease UNIPROT Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation. 24311784 2014
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 Biomarker disease BEFREE Autonomic dysfunction in SCN9A-associated primary erythromelalgia. 23152140 2013
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease BEFREE Mutations in human SCN9A gene, encoding the α-subunit of the voltage-gated sodium channel, Na(v)1.7, were found to be responsible for PE. 23383113 2013
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease BEFREE Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation. 22033523 2012
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 CausalMutation disease CLINVAR Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker. 22035805 2012
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 CausalMutation disease CLINVAR Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. 21698661 2012
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease BEFREE Here we present a PEM case with R1150W polymorphism in SCN9A and a five-year remission was achieved by chemical lumbar sympathectomy (CLS). 20959280 2011
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease BEFREE Mutations in SCN9A cause three human pain disorders: bi-allelic loss of function mutations result in Channelopathy-associated Insensitivity to Pain (CIP), whereas activating mutations cause severe episodic pain in Paroxysmal Extreme Pain Disorder (PEPD) and Primary Erythermalgia (PE). 20635406 2010
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease BEFREE Mutations in the voltage-gated Na(V)1.7 Na(+) channel alpha1 gene SCN9A have been linked to pain disorders, such as inherited primary erythromelalgia and paroxysmal extreme pain disorder. 20074229 2010
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 Biomarker disease CTD_human A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. 19557861 2009
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 Biomarker disease CTD_human Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel. 19549232 2009
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease UNIPROT Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. 19369487 2009
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease 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
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease BEFREE We detected a low SCN9A mutation rate in patients with primary erythermalgia, suggesting that pain syndromes in the skin may have a polygenic basis. 18347287 2008
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease BEFREE We found a novel mutation of SCN9A, which is a responsible gene for primary erythermalgia in this case. 17985268 2007
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 Biomarker disease CTD_human Other mutations in SCN9A associated with more negative activation thresholds are known to cause primary erythermalgia (PE). 17145499 2006
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease BEFREE Other mutations in SCN9A associated with more negative activation thresholds are known to cause primary erythermalgia (PE). 17145499 2006
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease UNIPROT Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy. 16988069 2006
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease UNIPROT A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons. 16702558 2006
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease UNIPROT Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7. 16392115 2006
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GermlineCausalMutation disease ORPHANET Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. 15958509 2005
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease UNIPROT Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7. 16216943 2005