Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1
0.300 GermlineCausalMutation disease ORPHANET Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2. 26346102 2015
CUI: C1865020
Disease: Short QT Syndrome 1
Short QT Syndrome 1
0.300 GermlineCausalMutation disease ORPHANET Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. 15159330 2004