Disease: Potassium aggravated myotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908561
rs121908561
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2931826
Disease:
Potassium aggravated myotonia 		0.700 GeneticVariation UNIPROT A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes. 27653901 2016
dbSNP: rs121908561
rs121908561
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2931826
Disease:
Potassium aggravated myotonia 		0.700 GeneticVariation UNIPROT New mutation of the Na channel in the severe form of potassium-aggravated myotonia. 19347921 2009
dbSNP: rs121908561
rs121908561
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2931826
Disease:
Potassium aggravated myotonia 		0.700 GeneticVariation UNIPROT Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 18337100 2009
dbSNP: rs121908561
rs121908561
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2931826
Disease:
Potassium aggravated myotonia 		0.700 GeneticVariation UNIPROT Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy. 20076800 2009
dbSNP: rs121908561
rs121908561
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2931826
Disease:
Potassium aggravated myotonia 		0.700 GeneticVariation UNIPROT Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene. 18203179 2008
dbSNP: rs121908561
rs121908561
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2931826
Disease:
Potassium aggravated myotonia 		0.700 GeneticVariation UNIPROT A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia. 19015483 2008
dbSNP: rs121908561
rs121908561
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2931826
Disease:
Potassium aggravated myotonia 		0.700 GeneticVariation UNIPROT A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. 17998485 2007
dbSNP: rs121908561
rs121908561
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2931826
Disease:
Potassium aggravated myotonia 		0.700 GeneticVariation UNIPROT A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene. 17212350 2007
dbSNP: rs121908561
rs121908561
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2931826
Disease:
Potassium aggravated myotonia 		0.700 GeneticVariation UNIPROT Cold extends electromyography distinction between ion channel mutations causing myotonia. 16786525 2006
dbSNP: rs121908561
rs121908561
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2931826
Disease:
Potassium aggravated myotonia 		0.700 GeneticVariation UNIPROT Autosomal dominant monosymptomatic myotonia permanens. 16832098 2006
dbSNP: rs121908561
rs121908561
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2931826
Disease:
Potassium aggravated myotonia 		0.700 GeneticVariation UNIPROT Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. 10218481 1999
dbSNP: rs121908561
rs121908561
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2931826
Disease:
Potassium aggravated myotonia 		0.700 GeneticVariation UNIPROT A novel muscle sodium channel mutation causes painful congenital myotonia. 9392583 1997
dbSNP: rs121908561
rs121908561
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2931826
Disease:
Potassium aggravated myotonia 		0.700 GeneticVariation UNIPROT Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. 8058156 1994