| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | The S140T mutation in myelin P0 can be associated with conduction block and Charcot-Marie-Tooth should be part of the differential diagnosis of that phenomenon. | 12207932 | 2002 |
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|
0.010 | GeneticVariation | BEFREE | Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. | 18061454 | 2008 |
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|
0.020 | GeneticVariation | BEFREE | We also find that rs6795970 is associated with a higher risk of heart block (P < 0.05) and a lower risk of ventricular fibrillation (P = 0.01). | 20062061 | 2010 |
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|
0.010 | GeneticVariation | BEFREE | This case highlights that patchy demyelinating neuropathy with conduction block may occur in p.Ile112Thr MPZ mutations. | 21256749 | 2011 |
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|
0.020 | GeneticVariation | BEFREE | In addition, the A allele remained significant after adjusting for other covariates in a multivariate model (odds ratio = 6.30 [95% confidence interval: 2.24 to 19.09], P = 0.0005).The rs6795970 in the SCN10A gene, which is reported to carry a high risk of heart block, might be associated with cardiac conduction abnormalities in HCM patients. | 26104176 | 2015 |
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|
0.010 | GeneticVariation | BEFREE | Consequentially, the vulnerability to unidirectional conduction block in response to a premature stimulus increased at tissue level in the G1911R mutation. | 27502440 | 2016 |
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|
0.010 | GeneticVariation | BEFREE | To recapitulate progressive human dilated cardiomyopathy (DCM) and heart block in the Lmna R225X mutant mice model and investigate the molecular basis of LMNA mutation induced cardiac conduction disorders (CD); To investigate the potential interventional impact of exercise endurance. | 31668660 | 2020 |