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 R83H was recently found in two FHypoKPP unrelated families, in which the mutant decreased outward potassium flux, resulting in a more positive resting membrane potential. 12414843 2002