Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
0.020 GeneticVariation disease BEFREE Mutations of the KVLQT1 gene, a cardiac potassium channel, generate two allelic diseases: the Romano-Ward syndrome, inherited as a dominant trait, and the Jervell and Lange-Nielsen syndrome, inherited as an autosomal recessive trait. 9641694 1998
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
0.020 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