Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hypokalemic periodic paralysis type 1
0.460 GeneticVariation disease BEFREE Subclinical myotonia was identified in four patients with hypokalemic periodic paralysis because of sodium voltage-gated channel alpha subunit 4 mutations. 31567646 2019
Hypokalemic periodic paralysis type 1
0.460 Biomarker disease BEFREE Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis. 26252573 2015
Hypokalemic periodic paralysis type 1
0.460 GeneticVariation disease 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
Hypokalemic periodic paralysis type 1
0.460 GeneticVariation disease BEFREE Sporadic periodic paralysis (SPP), the second leading cause of hypokalemic periodic paralysis (HPP) in Asia, has a presentation similar to that of familial periodic paralysis (FPP) and is caused by gene mutations in the calcium (Ca(2+)) (CACNA1S) and sodium (Na(+)) (SCN4A) channels of skeletal muscle. 21841462 2012
Hypokalemic periodic paralysis type 1
0.460 Biomarker disease BEFREE We undertook direct automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 cases of hypokalemic periodic paralysis. 19118277 2009
Hypokalemic periodic paralysis type 1
0.460 GeneticVariation disease BEFREE Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis. 15072700 2004
Hypokalemic periodic paralysis type 1
0.460 Biomarker disease CTD_human
Hypokalemic periodic paralysis type 1
0.460 CausalMutation disease CLINVAR
Hypokalemic periodic paralysis type 1
0.460 GeneticVariation disease CLINVAR