| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | BEFREE | We identified a novel association between MYBPH and hypertrophy traits in HCM patients carrying the p.A797T MYH7 mutation, suggesting that variation in MYBPH can modulate the severity of hypertrophy in HCM. | 26969327 | 2016 |
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|
T | 0.710 | CausalMutation | CLINVAR | Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. | 25031304 | 2014 |
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T | 0.710 | CausalMutation | CLINVAR | Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. | 24793961 | 2014 |
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T | 0.710 | CausalMutation | CLINVAR | Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. | 23233322 | 2013 |
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T | 0.710 | CausalMutation | CLINVAR | Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations. | 19880069 | 2009 |
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T | 0.710 | CausalMutation | CLINVAR | Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. | 18029407 | 2008 |
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T | 0.710 | CausalMutation | CLINVAR | [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. | 17125710 | 2006 |
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T | 0.710 | CausalMutation | CLINVAR | Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. | 15358028 | 2004 |
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T | 0.710 | CausalMutation | CLINVAR | Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation. | 11186938 | 2000 |
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T | 0.710 | CausalMutation | CLINVAR | The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. | 10521296 | 1999 |
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T | 0.710 | CausalMutation | CLINVAR | Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy. | 7581410 | 1995 |