| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | CLINGEN | Minigenes encoding N-terminal domains of human cardiac myosin light chain-1 improve heart function of transgenic rats. | 16675844 | 2006 | ||||
|
0.700 | Biomarker | disease | CLINGEN | Gene mutations in apical hypertrophic cardiomyopathy. | 16267253 | 2005 | ||||
|
0.700 | GeneticVariation | disease | BEFREE | Alpha-cardiac actin is one of the disease genes where different missense mutations have been found to cause either HCM or DCM. | 15819894 | 2005 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Gene mutations in apical hypertrophic cardiomyopathy. | 16267253 | 2005 | ||||
|
0.700 | Biomarker | disease | BEFREE | Our results indicate that defects in the ACTC gene do not explain dilated cardiomyopathy or hypertrophic cardiomyopathy in subjects from Eastern Finland and confirm earlier results that the ACTC gene does not play an important role in the genetics of dilated or hypertrophic cardiomyopathies. | 12075240 | 2002 | ||||
|
0.700 | GeneticVariation | disease | BEFREE | Here, actin mutants corresponding to alpha-cardiac actin mutations causing hypertrophic cardiomyopathy [(HCM) P164A and A331P] and dilated cardiomyopathy [(DCM) R312H and E361G] were expressed in yeast and purified for in vitro functional studies. | 12222827 | 2001 | ||||
|
0.700 | GeneticVariation | disease | BEFREE | De novo mutations in ACTC were identified in two patients with sporadic HCM who presented with syncope in early childhood. | 10966831 | 2000 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. | 10966831 | 2000 | ||||
|
0.700 | Biomarker | disease | CLINGEN | Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. | 10966831 | 2000 | ||||
|
0.700 | Biomarker | disease | CLINGEN | Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. | 10330430 | 1999 | ||||
|
0.700 | Biomarker | disease | HPO |