Hypokalemic periodic paralysis

Disease Term Disease ID Gene Symbol Classification References Source
Hypokalemic periodic paralysis 681, C0238358 CACNA1S Causal Pathogenic evidence from ClinVar 11912116, 19822448 ClinVar
SCN4A Causal Pathogenic evidence from ClinVar 11912116, 15534250 ClinVar
ATP1A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18056581 -
KCNE3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14504341, 15037713 -
Hypokalemic periodic paralysis type 1 C3714580 CACNA1S Causal Pathogenic evidence from ClinVar 7847370, 7987325, 8004673, 8605978, 9066893, 9512357, 9852570, 10639629, 11034874, 11555352, 11808349, 15716625, 15726306, 17418573, 18162704, 18229654, 18835861, 19118277, 19225109, 21841462, 23187123, 25213595, 26633545, 28857175, 29572832 ClinVar
SCN4A Causal Pathogenic evidence from ClinVar - ClinVar
KCNJ18 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20074522 -
Hypokalemic Periodic Paralysis, Type 2 C2750061 SCN4A Causal Pathogenic evidence from ClinVar 10599760, 10851391, 10944223, 11558801, 11591859, 16890191, 17898326, 18162704, 19015483, 19118277, 20522878, 21043388, 24549961, 26700687 ClinVar
KCNJ2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16217063 -