Disease: Hypokalemic periodic paralysis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypokalemic periodic paralysis
CUI: C0238358
Disease: Hypokalemic periodic paralysis
0.010 GeneticVariation BEFREE As a result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively. 25839108 2015