rs80338778, CACNA1S

N. diseases: 2
Disease: Hypokalemic periodic paralysis type 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypokalemic periodic paralysis type 1
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
0.710 GeneticVariation BEFREE Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis. 19822448 2010
Hypokalemic periodic paralysis type 1
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
0.710 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
Hypokalemic periodic paralysis type 1
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
0.710 GeneticVariation UNIPROT Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. 19118277 2009
Hypokalemic periodic paralysis type 1
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
0.710 GeneticVariation UNIPROT Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family. 17418573 2007
Hypokalemic periodic paralysis type 1
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
0.710 GeneticVariation UNIPROT The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis. 18162704 2007
Hypokalemic periodic paralysis type 1
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
0.710 GeneticVariation UNIPROT Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. 8004673 1994
Hypokalemic periodic paralysis type 1
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
0.710 GeneticVariation UNIPROT A calcium channel mutation causing hypokalemic periodic paralysis. 7987325 1994