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 		0.020 Biomarker disease BEFREE Rare mutations in KCNH2 provide the pathogenic substrate for type 2 congenital long QT syndrome (LQTS), thus placing this cardiac potassium channel squarely in the intersection between congenital LQTS (the "Rosetta stone" of the heritable channelopathies) and acquired LQTS (drug-induced TdP). 16253929 2005
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.020 GeneticVariation disease BEFREE Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. 14661677 2003