Disease: Hypokalemic Periodic Paralysis, Type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908545
rs121908545
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.010 GeneticVariation BEFREE The second proband and part of his family with the overlap of PMC and hypokalemic periodic paralysis type 2 (HypoPP2) has been identified as c.4343G > A (R1448H) substitution of the gene SCN4A. 30931713 2019
dbSNP: rs1287863349
rs1287863349
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery. 24549961 2014
dbSNP: rs527236149
rs527236149
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery. 24549961 2014
dbSNP: rs1287863349
rs1287863349
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family. 21043388 2010
dbSNP: rs1287863349
rs1287863349
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene. 20522878 2010
dbSNP: rs527236149
rs527236149
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene. 20522878 2010
dbSNP: rs527236149
rs527236149
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family. 21043388 2010
dbSNP: rs1287863349
rs1287863349
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. 19118277 2009
dbSNP: rs527236149
rs527236149
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. 19118277 2009
dbSNP: rs1287863349
rs1287863349
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia. 17898326 2008
dbSNP: rs527236149
rs527236149
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia. 17898326 2008
dbSNP: rs1287863349
rs1287863349
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. 18162704 2007
dbSNP: rs527236149
rs527236149
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. 18162704 2007
dbSNP: rs1287863349
rs1287863349
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis. 16890191 2006
dbSNP: rs527236149
rs527236149
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis. 16890191 2006
dbSNP: rs1287863349
rs1287863349
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK. 11591859 2001
dbSNP: rs1287863349
rs1287863349
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. 11558801 2001
dbSNP: rs527236149
rs527236149
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK. 11591859 2001
dbSNP: rs527236149
rs527236149
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. 11558801 2001
dbSNP: rs1287863349
rs1287863349
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis. 10851391 2000
dbSNP: rs1287863349
rs1287863349
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. 10944223 2000
dbSNP: rs527236149
rs527236149
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. 10944223 2000
dbSNP: rs527236149
rs527236149
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis. 10851391 2000
dbSNP: rs1287863349
rs1287863349
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT A novel sodium channel mutation in a family with hypokalemic periodic paralysis. 10599760 1999
dbSNP: rs527236149
rs527236149
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
CUI: C2750061
Disease:
Hypokalemic Periodic Paralysis, Type 2 		0.700 GeneticVariation UNIPROT A novel sodium channel mutation in a family with hypokalemic periodic paralysis. 10599760 1999