Disease: Congenital long QT syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.040 Biomarker disease BEFREE Mutations in five cardiac voltage-gated ion channel genes, including KCNQ1, HERG, SCN5A, KCNE1 and KCNE2, constitute the principal cause of inherited long-QT syndrome (LQTS). 15176425 2004
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.040 Biomarker disease BEFREE In addition, mutations in the genes encoding IKr (KCNH2/KCNE2) and IKs (KCNQ1/KCNE1) channels have been identified in some types of the congenital long QT syndrome. 15023549 2004
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.040 GeneticVariation disease BEFREE Congenital long-QT syndrome (LQTS) is caused by mutations of genes encoding the slow component of the delayed rectifier current (LQT1, LQT5), the rapid component of the delayed rectifier current (LQT2, LQT6), or the Na(+) current (LQT3), resulting in ST-T-wave abnormalities on the ECG. 11104743 2000
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.040 GeneticVariation disease BEFREE Genetic studies have identified four forms of congenital long QT syndrome (LQTS) caused by mutations in ion channel genes located on chromosomes 3 (LQT3), 7 (LQT2), 11 (LQT1), and 21 (LQT5). 10688323 1999