| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish. | 21245263 | 2011 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish. | 21245263 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | The Delta 14 mutation of human cardiac troponin T enhances ATPase activity and alters the cooperative binding of S1-ADP to regulated actin. | 15568820 | 2004 |
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T | 0.700 | CausalMutation | CLINVAR | Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease. | 11560853 | 2001 |
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|
T | 0.700 | CausalMutation | CLINVAR | Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. | 10617660 | 2000 |
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|
T | 0.700 | CausalMutation | CLINVAR | Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants. | 10529204 | 1999 |
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|
T | 0.700 | CausalMutation | CLINVAR | A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy. | 9637714 | 1998 |
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|
T | 0.700 | CausalMutation | CLINVAR | Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action. | 8958207 | 1996 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. | 7898523 | 1995 |
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T | 0.700 | CausalMutation | CLINVAR | Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. | 8205619 | 1994 |