Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | CausalMutation | CLINVAR | Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation. | 27036851 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | Hypertrophic cardiomyopathy: one gene … but many phenotypes. | 24792744 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy. | 24480310 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. | 22260945 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT. | 22579624 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene. | 22144547 | 2012 |
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T | 0.700 | CausalMutation | CLINVAR | Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. | 20624503 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | Functional consequences of the deletion mutation deltaGlu160 in human cardiac troponin T. | 10731693 | 2000 |
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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 |