Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Long QT Syndrome 1
|
0.800 | CausalMutation | CLINVAR | ||||||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene. | 9272155 | 1997 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. | 16414944 | 2005 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. | 9024139 | 1997 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | A molecular mechanism for adrenergic-induced long QT syndrome. | 24184248 | 2014 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. | 9693036 | 1998 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome. | 25705178 | 2015 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. | 19808498 | 2009 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. | 10220146 | 1999 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability. | 21241800 | 2011 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | [Congenital long QT syndrome. The value of genetics in prognostic evaluation]. | 10367071 | 1999 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. | 9323054 | 1997 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. | 16922724 | 2006 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. | 9482580 | 1998 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome. | 9386136 | 1997 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. | 12442276 | 2002 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction. | 18165683 | 2008 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Evidence of a long QT founder gene with varying phenotypic expression in South African families. | 8818942 | 1996 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | A recessive variant of the Romano-Ward long-QT syndrome? | 9641694 | 1998 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | New mutations in the KVLQT1 potassium channel that cause long-QT syndrome. | 9570196 | 1998 | |||||
Long QT Syndrome 1
|
0.800 | GeneticVariation | UNIPROT | Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. | 9312006 | 1997 |