Disease Term Disease ID Gene Symbol Classification References Source
Familial short QT syndrome 51083 KCNH2 Causal Pathogenic evidence from ClinVar - ClinVar
KCNJ2 Causal Pathogenic evidence from ClinVar - ClinVar
KCNQ1 Causal Pathogenic evidence from ClinVar - ClinVar
CACNA2D1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Short QT Syndrome 1 C1865020 KCNH2 Causal Pathogenic evidence from ClinVar 7889573, 10483966, 10862094, 14676148, 15828882, 18692916, 19490267, 22949429, 29085299, 29574456 ClinVar
KCNJ2 Causal Pathogenic evidence from ClinVar 15761194 ClinVar
KCNQ1 Causal Pathogenic evidence from ClinVar 15159330, 26346102 ClinVar
CACNA2D1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21383000 -
Short QT Syndrome 3 C1865018 KCNJ2 Causal Pathogenic evidence from ClinVar 11371347, 12086641, 12148092, 12163457, 12796536, 12909315, 14522976, 15761194, 15911703, 16217063, 16818210, 17119796, 17211524, 17221872, 17341397, 17568571, 17582433, 18452873, 20382953, 21493816, 22002906, 22589293, 22806368, 23595086, 23644778, 23867365, 24861851, 25415519, 25691870, 27761157, 28003625 ClinVar
Short Qt Syndrome C2348199 KCNQ1 Causal Pathogenic evidence from ClinVar - ClinVar
SHORT QT SYNDROME 2 (disorder) C1865019 KCNQ1 Causal Pathogenic evidence from ClinVar 8528244, 15159330, 29697308 ClinVar