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 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 Biomarker disease CTD_human A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia. 19557861 2009
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
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 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 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 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 Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation. 22033523 2012
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease BEFREE Our data suggest that mutations in SCN9A cause primary erythermalgia. 14985375 2004
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 Biomarker disease GENOMICS_ENGLAND
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 GeneticVariation disease UNIPROT Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy. 15385606 2004
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 GeneticVariation disease UNIPROT Our data suggest that mutations in SCN9A cause primary erythermalgia. 14985375 2004
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 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 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 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 UNIPROT 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 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 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 SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels. 15955112 2005
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 Biomarker disease GENOMICS_ENGLAND Our data suggest that mutations in SCN9A cause primary erythermalgia. 14985375 2004