| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.720 | 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 |
|||
|
T | 0.720 | CausalMutation | CLINVAR | Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. | 15519027 | 2004 |
|||
|
T | 0.720 | CausalMutation | CLINVAR | Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy. | 20031602 | 2009 |
|||
|
T | 0.720 | CausalMutation | CLINVAR | Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency. | 19574547 | 2009 |
|||
|
T | 0.720 | CausalMutation | CLINVAR | Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. | 23233322 | 2013 |
|||
|
T | 0.720 | CausalMutation | CLINVAR | Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. | 18957093 | 2008 |
|||
|
T | 0.720 | CausalMutation | CLINVAR | Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. | 25031304 | 2014 |
|||
|
0.720 | GeneticVariation | BEFREE | Our objective was to define the primary contractile effect and molecular disease mechanisms of the prevalent cMyBP-C E258K HCM-causing mutation in nonremodeled murine engineered cardiac tissue (mECT). | 23980194 | 2013 |
||||
|
0.720 | GeneticVariation | BEFREE | Here, we study possible mechanisms of unbinding using steered molecular dynamics simulations for the complex in the wild type, in single mutations (E258K in C1, E441K in C2), as well as in a double mutation (E258K in C1 + E441K in C2), which are associated with severe HCM. | 27267291 | 2017 |