Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Long QT Syndrome
|
0.710 | CausalMutation | CLINVAR | KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome. | 22515331 | 2012 | |||||
Long QT Syndrome
|
0.710 | CausalMutation | CLINVAR | Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations. | 19324319 | 2009 | |||||
Long QT Syndrome
|
0.710 | CausalMutation | CLINVAR | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. | 15840476 | 2005 | |||||
Long QT Syndrome
|
0.710 | CausalMutation | CLINVAR | These data suggest that R863X failed to form functional HERG channels, contributing to a prolongation of the QT interval and long QT syndrome with a dominant phenotype. | 14714110 | 2004 | |||||
Long QT Syndrome
|
0.710 | GeneticVariation | BEFREE | These data suggest that R863X failed to form functional HERG channels, contributing to a prolongation of the QT interval and long QT syndrome with a dominant phenotype. | 14714110 | 2004 | |||||
Long QT Syndrome
|
0.710 | CausalMutation | CLINVAR | The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. | 12566525 | 2003 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Molecular pathogenesis of long QT syndrome type 2. | 27761161 | 2016 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. | 25974115 | 2015 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Gain-of-function KCNH2 mutations in patients with Brugada syndrome. | 24400717 | 2014 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | A novel mutation in the KCNH2 gene associated with short QT syndrome. | 21130771 | 2011 | |||||
Overgrowth
|
0.700 | CausalMutation | 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 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Long QT Syndrome. | 18835466 | 2008 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. | 17210839 | 2007 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Short QT syndrome: clinical findings and diagnostic-therapeutic implications. | 16926178 | 2006 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. | 16414944 | 2005 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. | 15828882 | 2005 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. | 15840476 | 2005 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Short QT Syndrome: a familial cause of sudden death. | 12925462 | 2003 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. | 11136691 | 2001 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. | 10220144 | 1999 | |||||
Epilepsy
|
0.010 | GeneticVariation | BEFREE | R863X alteration in HERG channel may be involved in both prolonged QTc interval and epilepsy. | 22515331 | 2012 | |||||
Cardiac Arrhythmia
|
0.010 | GeneticVariation | BEFREE | This fact raises the possibility that R863X alteration in KCNH2-encoded potassium channel may confer susceptibility for epilepsy and cardiac LQT-2 arrhythmia. | 22515331 | 2012 |