Disease: PAROXYSMAL EXTREME PAIN DISORDER ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879253994
rs879253994
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		0.800 GeneticVariation UNIPROT p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder. 25285947 2015
dbSNP: rs879253994
rs879253994
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		0.800 GeneticVariation 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
dbSNP: rs879253994
rs879253994
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		0.800 GeneticVariation UNIPROT SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes. 17145499 2006
dbSNP: rs879253994
rs879253994
Entrez Id: 6335;101929680
Gene Symbol: SCN9A;SCN1A-AS1
SCN9A;SCN1A-AS1
CUI: C1833661
Disease:
PAROXYSMAL EXTREME PAIN DISORDER 		T 0.800 CausalMutation CLINVAR