Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 GeneticVariation disease BEFREE Type-1 long-QT syndrome (LQTS) is caused by loss-of-function mutations in the KCNQ1-encoded I(Ks) cardiac potassium channel. 17470695 2007
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 GeneticVariation disease BEFREE Mutations in the cardiac potassium channel HERG (KCNH2) cause chromosome 7-linked long QT syndrome (LQT2) characterized by a prolonged QT interval, recurrent syncope and sudden cardiac death. 11113008 2000
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 GeneticVariation disease BEFREE KCNE2 encodes MinK-related peptide 1 (MiRP1), a subunit of the cardiac potassium channel I(Kr) that has been associated previously with inherited LQTS. 10984545 2000
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 GeneticVariation disease BEFREE An exercise stress test was performed in 23 patients with a pore region mutation and in 22 patients with a C-terminal end mutation of the cardiac potassium channel gene causing LQT1 type of long QT syndrome (KVLQT1 gene), as well as in 20 patients with mutations of the cardiac potassium channel gene causing LQT2 type of long QT syndrome (HERG gene) and in 33 healthy relatives. 10483966 1999
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.050 GeneticVariation disease BEFREE KVLQT1, the gene encoding the alpha-subunit of a cardiac potassium channel, is the most common cause of the dominant form of long-QT syndrome (LQT1-type), the Romano-Ward syndrome (RWS). 9386136 1997