Disease: Long QT Syndrome 1 ×
Source: ALL
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 		0.180 GeneticVariation disease BEFREE All tracings were different from the study of 4 algorithms reported in 2014, and the selected population was heavily weighted toward groups with known effects on the QT interval: included were 200 normal subjects, 200 normal subjects receiving moxifloxacin as part of an active control arm of thorough QT studies, 200 subjects with genetically proved long QT syndrome type 1 (LQT1), and 200 subjects with genetically proved long QT syndrome Type 2 (LQT2). 29898835 2018
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.180 GeneticVariation disease BEFREE KCNH2 p.His492Tyr variant presented Romano-Ward syndrome in the presence of another mutation and heterozygous carriers had mild phenotypes while even heterozygous carriers should be cared for not to encounter secondary factors because incidental factors could manifest "latent" form of p.His492Tyr heterozygous carriers. 27816319 2017
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.180 GeneticVariation disease CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661 2016
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.180 GeneticVariation disease CLINVAR Clinical and genetic features of Australian families with long QT syndrome: A registry-based study. 27920829 2016
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.180 Biomarker disease BEFREE At baseline, individual QT/RR coefficients were higher in LQT2 than in LQT1 patients (0.53 ± 0.10 vs. 0.40 ± 0.11, P < 0.001) and QT1000 was longer in LQT2 than in LQT1 patients (521 ± 38 vs. 481 ± 39 ms, P < 0.01). 23879280 2013
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.180 Biomarker disease BEFREE LQT1 patients had significantly longer corrected QT (QTc) than LQT2 intervals during early recovery (P <.01). 20226272 2010
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.180 GeneticVariation disease CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085 2009
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.180 GeneticVariation disease BEFREE In conclusion, the Ala490Pro mutation of the human ether-a-go-go-related gene is a rare, novel mutation that was inherited in this family, leading to Romano-Ward syndrome with complete penetrance. 17560885 2007
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.180 GeneticVariation disease BEFREE We reviewed 24-h electrocardiographic recordings from 214 genotyped subjects--97 with long-QT syndrome type 1 (LQT1), 62 with LQT2, and 55 unaffected--to record maximal diurnal amplitude ratios between late and early T-wave peaks. 16386673 2006
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.180 GeneticVariation disease BEFREE Epinephrine infusion is a powerful test to predict the genotype of LQT1, LQT2, and LQT3 syndromes as well as to improve the clinical diagnosis of genotype-positive patients, especially those with LQT1 syndrome. 15851169 2004
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1 		0.180 Biomarker disease BEFREE The risk of cardiac events was higher among LQT2 (adjusted relative risk, 2.81; 95% confidence interval [CI], 1.50-5.27; P =.001) and LQT3 (adjusted relative risk, 4.00; 95% CI, 2.45-8.03; P<.001) patients than among LQT1 patients, suggesting inadequate protection from beta-blocker therapy. 15367556 2004