| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Long QT Syndrome
|
0.700 | CausalMutation | CLINVAR | Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. | 26496715 | 2016 | |||||
Long QT Syndrome
|
0.700 | CausalMutation | CLINVAR | Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects. | 26063740 | 2015 | |||||
Long QT Syndrome
|
0.700 | CausalMutation | CLINVAR | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. | 25417810 | 2014 | |||||
Long QT Syndrome
|
0.700 | CausalMutation | CLINVAR | Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. | 24606995 | 2014 | |||||
Long QT Syndrome
|
0.700 | CausalMutation | CLINVAR | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. | 23303164 | 2013 | |||||
Long QT Syndrome
|
0.700 | CausalMutation | CLINVAR | Structure-guided topographic mapping and mutagenesis to elucidate binding sites for the human ether-a-go-go-related gene 1 potassium channel (KCNH2) activator NS1643. | 22573844 | 2012 | |||||
Long QT Syndrome
|
0.700 | CausalMutation | CLINVAR | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. | 19841300 | 2009 | |||||
Long QT Syndrome
|
0.700 | CausalMutation | CLINVAR | Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. | 18808722 | 2008 | |||||
Long QT Syndrome
|
0.700 | CausalMutation | CLINVAR | Long QT and Brugada syndrome gene mutations in New Zealand. | 17905336 | 2007 | |||||
Long QT Syndrome
|
0.700 | CausalMutation | CLINVAR | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. | 16432067 | 2006 | |||||
Long QT Syndrome
|
0.700 | CausalMutation | CLINVAR | Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. | 11854117 | 2002 | |||||
Long QT Syndrome
|
0.700 | CausalMutation | CLINVAR | Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. | 11468227 | 2001 | |||||
Long QT Syndrome
|
0.700 | CausalMutation | CLINVAR | Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. | 10973849 | 2000 | |||||
Long QT Syndrome
|
0.700 | CausalMutation | CLINVAR | Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. | 9544837 | 1998 | |||||
Long QT Syndrome
|
0.700 | GeneticVariation | CLINVAR |