Congenital long qt syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Congenital long QT syndrome C1141890 KCNE1 Causal Pathogenic evidence from ClinVar 9354783, 9354802, 9445165, 11320260, 12566567, 15840476, 16818210, 19008479, 19340287, 19521339, 19716085, 24400172, 24561134, 24606995, 26187847 ClinVar
KCNH2 Causal Pathogenic evidence from ClinVar 10483966, 10862094, 10973849, 11009462, 11278781, 11741928, 11854117, 12270925, 12808265, 16432067, 16831322, 18441445, 19490267, 19695459, 19716085, 19843919, 21440677, 22949429, 23098067, 23158531, 23303164, 23631430, 24057343, 25158096, 26187847, 26669661, 27816319, 28349240, 29431731, 29766885 ClinVar
KCNQ1 Causal Pathogenic evidence from ClinVar 9024139, 9693036, 9927399, 10560595, 10704188, 10973849, 11087258, 11140949, 11530100, 12051962, 12702160, 14678125, 15051636, 15466642, 15781747, 15840476, 16556865, 16818214, 17470695, 17905336, 18580685, 19590188, 19716085, 19841300, 20421371, 22456477, 22539601, 22727609, 22949429, 23130128, 23392653, 23631430, 23844633, 24357532, 24606995, 24666684, 25444851, 25453094, 25935074, 26546361, 26669661, 27041150, 27485560, 27831900, 28944242, 29532034 ClinVar
SCN5A Causal Pathogenic evidence from ClinVar 10377081, 10727653, 11901046, 16379539, 18451998, 21321465, 23631430, 24871449 ClinVar
KCNQ1OT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19716085, 19841300 -
SCN4B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17592081 -