| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. | 26507537 | 2016 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach. | 22334656 | 2012 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Shared genetic causes of cardiac hypertrophy in children and adults. | 18403758 | 2008 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction. | 14722098 | 2004 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. | 10617660 | 2000 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy. | 10085122 | 1999 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Sudden death due to troponin T mutations. | 9060892 | 1997 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility. | 9201030 | 1997 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene. | 8951566 | 1996 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. | 7898523 | 1995 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. | 8205619 | 1994 |