Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | GeneticVariation | CLINVAR | Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. | 24510615 | 2014 |
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T | 0.700 | GeneticVariation | CLINVAR | An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin. | 23967088 | 2013 |
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T | 0.700 | GeneticVariation | CLINVAR | High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. | 22876777 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. | 22429680 | 2012 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy. | 21533915 | 2011 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. | 21310275 | 2011 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Low prevalence and variable clinical presentation of troponin I and troponin T gene mutations in hypertrophic cardiomyopathy. | 19645627 | 2009 |
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T | 0.700 | GeneticVariation | CLINVAR | Shared genetic causes of cardiac hypertrophy in children and adults. | 18403758 | 2008 |
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T | 0.700 | GeneticVariation | CLINVAR | Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. | 15607392 | 2004 |
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T | 0.700 | GeneticVariation | CLINVAR | Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. | 12860912 | 2003 |
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T | 0.700 | GeneticVariation | CLINVAR | Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. | 12707239 | 2003 |