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 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 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 Biomarker disease GENOMICS_ENGLAND Small fibre neuropathy. 28665811 2017
CUI: C0014805
Disease: Primary Erythermalgia
Primary Erythermalgia 		0.800 Biomarker disease GENOMICS_ENGLAND
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 UNIPROT We examined four different families and two sporadic cases and detected missense sequence variants in SCN9A to be present in primary erythermalgia patients. 15955112 2005
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 GeneticVariation disease UNIPROT Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation. 19369487 2009
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 BEFREE A recent study reported voltage-gated sodium channel gene SCN9a sequence variants in a family and a single individual with primary erythermalgia. 16029345 2005