Disease: Neuropathy, Hereditary Sensory And Autonomic, Type IIA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908913
rs121908913
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C2752089
Disease:
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		A 0.700 CausalMutation CLINVAR Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents. 21115638 2011
dbSNP: rs121908913
rs121908913
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C2752089
Disease:
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		A 0.700 CausalMutation CLINVAR Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation. 18599537 2008
dbSNP: rs121908913
rs121908913
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C2752089
Disease:
Neuropathy, Hereditary Sensory And Autonomic, Type IIA 		A 0.700 CausalMutation CLINVAR SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. 17145499 2006