rs527236150, SCN4A

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypokalemic Periodic Paralysis, Type 2
0.800 GeneticVariation UNIPROT NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery. 24549961 2014
Hypokalemic Periodic Paralysis, Type 2
0.800 GeneticVariation UNIPROT Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family. 21043388 2010
Hypokalemic Periodic Paralysis, Type 2
0.800 GeneticVariation UNIPROT Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene. 20522878 2010
Hypokalemic Periodic Paralysis, Type 2
0.800 GeneticVariation UNIPROT Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. 19118277 2009
Hypokalemic Periodic Paralysis, Type 2
0.800 GeneticVariation UNIPROT Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia. 17898326 2008
Hypokalemic Periodic Paralysis, Type 2
0.800 GeneticVariation UNIPROT The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. 18162704 2007
Hypokalemic Periodic Paralysis, Type 2
0.800 GeneticVariation UNIPROT Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis. 16890191 2006
Hypokalemic Periodic Paralysis, Type 2
0.800 GeneticVariation UNIPROT Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. 11558801 2001
Hypokalemic Periodic Paralysis, Type 2
0.800 GeneticVariation UNIPROT Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK. 11591859 2001
Hypokalemic Periodic Paralysis, Type 2
0.800 GeneticVariation UNIPROT Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis. 10851391 2000
Hypokalemic Periodic Paralysis, Type 2
0.800 GeneticVariation UNIPROT Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. 10944223 2000
Hypokalemic Periodic Paralysis, Type 2
0.800 GeneticVariation UNIPROT A novel sodium channel mutation in a family with hypokalemic periodic paralysis. 10599760 1999
Hypokalemic Periodic Paralysis, Type 2
0.800 CausalMutation CLINVAR
Normokalemic Periodic Paralysis, Potassium-Sensitive
0.700 CausalMutation CLINVAR NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery. 24549961 2014
Hyperkalemic periodic paralysis
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
0.700 CausalMutation CLINVAR NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery. 24549961 2014
Hyperkalemic periodic paralysis
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
0.700 CausalMutation CLINVAR Prevalence study of genetically defined skeletal muscle channelopathies in England. 23516313 2013
Normokalemic Periodic Paralysis, Potassium-Sensitive
0.700 CausalMutation CLINVAR Prevalence study of genetically defined skeletal muscle channelopathies in England. 23516313 2013
Normokalemic Periodic Paralysis, Potassium-Sensitive
0.700 CausalMutation CLINVAR Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. 19118277 2009
Hyperkalemic periodic paralysis
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
0.700 CausalMutation CLINVAR Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. 19118277 2009