Disease Term Disease ID Gene Symbol Classification References Source
Hyperkalemic periodic paralysis 682, C0238357 SCN4A Causal Pathogenic evidence from ClinVar 1310898, 1316765, 1338909, 1659668, 1659948, 2649440, 7473241, 7676326, 7809121, 7980103, 8005599, 8044656, 8110459, 8242056, 8308722, 8580427, 8619545, 8902732, 8910215, 9131651, 9339683, 9392583, 9508833, 9660885, 9771789, 10218481, 10366610, 10381583, 10599760, 10944223, 11102465, 11558801, 11591859, 11744749, 11757950, 11912116, 11971097, 12562902, 14504341, 14518676, 15482957, 15534250, 15557532, 15596759, 15642860, 15645704, 15790667, 16392038, 16801039, 16832098, 16890191, 17212350, 17330043, 17334961, 17395131, 17823953, 18046642, 18162704, 18166706, 18337100, 18337730, 18824591, 19015483, 19015492, 19052238, 19065518, 19077043, 19118277, 19225109, 19770477, 19840739, 19882638, 20038812, 20076800, 20445432, 20522878, 20660662, 20713951, 21189962, 21220685, 21490317, 21665479, 21841462, 21881211, 22094069, 22106717, 22253644, 22253645, 22653516, 22914841, 22926674, 23019082, 23516313, 23771340, 23801527, 23810313, 24549961, 24682880, 24714718, 24939454, 24943082, 25024265, 25088311, 25213595, 25311598, ClinVar
CLCN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22649220 -
KCNE3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14504341, 15037713 -
Hyperkalemic Periodic Paralysis Type 2 C3489447 SCN4A Causal Pathogenic evidence from ClinVar 1659948 ClinVar