Source: INFERRED ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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A | 0.700 | CausalMutation | CLINVAR | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | 27532257 | 2017 |
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A | 0.700 | CausalMutation | CLINVAR | Significance of left ventricular apical-basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy. | 24810389 | 2014 |
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A | 0.700 | CausalMutation | CLINVAR | Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy. | 23690394 | 2013 |
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A | 0.700 | CausalMutation | CLINVAR | Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy. | 22563033 | 2012 |
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A | 0.700 | CausalMutation | CLINVAR | Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. | 21839045 | 2012 |
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A | 0.700 | CausalMutation | CLINVAR | Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome. | 22267749 | 2012 |
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A | 0.700 | CausalMutation | CLINVAR | Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. | 20818890 | 2010 |
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A | 0.700 | CausalMutation | CLINVAR | Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. | 20378854 | 2010 |
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A | 0.700 | CausalMutation | CLINVAR | Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. | 20031618 | 2009 |
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A | 0.700 | CausalMutation | CLINVAR | Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. | 19574547 | 2009 |
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A | 0.700 | CausalMutation | CLINVAR | Shared genetic causes of cardiac hypertrophy in children and adults. | 18403758 | 2008 |
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A | 0.700 | CausalMutation | CLINVAR | Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure. | 18761664 | 2008 |
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A | 0.700 | CausalMutation | CLINVAR | Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy. | 18809796 | 2008 |
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A | 0.700 | CausalMutation | CLINVAR | Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. | 16199542 | 2005 |
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A | 0.700 | CausalMutation | CLINVAR | Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. | 15519027 | 2004 |
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A | 0.700 | CausalMutation | CLINVAR | Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. | 12707239 | 2003 |