Disease: Primary Erythermalgia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200945460
rs200945460
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		T 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs200945460
rs200945460
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		T 0.700 CausalMutation CLINVAR Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy. 21698661 2012
dbSNP: rs200945460
rs200945460
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C0014805
Disease:
Primary Erythermalgia 		T 0.700 CausalMutation CLINVAR Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker. 22035805 2012