rs17215437, KCNE3

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
periodic paralysis (finding)
CUI: C1279412
Disease: periodic paralysis (finding)
0.020 GeneticVariation BEFREE Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. 15037716 2004
Familial Periodic Paralysis
CUI: C0030443
Disease: Familial Periodic Paralysis
0.020 GeneticVariation BEFREE Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation. 15037716 2004
periodic paralysis (finding)
CUI: C1279412
Disease: periodic paralysis (finding)
0.020 GeneticVariation BEFREE These observations weaken the proposal that MiRP2-R83H causes periodic paralysis. 14504341 2003
Familial Periodic Paralysis
CUI: C0030443
Disease: Familial Periodic Paralysis
0.020 GeneticVariation BEFREE These observations weaken the proposal that MiRP2-R83H causes periodic paralysis. 14504341 2003
Hyperkalemic periodic paralysis
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
0.010 GeneticVariation BEFREE Last, because hyperkalemic PP has been described to be associated with an R83H mutation of a MiRP2 potassium channel subunit, evidence refuting disease-causality in this case will be discussed. 17395131 2007
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