| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.460 | GeneticVariation | group | BEFREE | This mutation and 2 other ACTC1 mutations (p.(Glu101Lys) and p.(Met125Val)) which result also in congenital heart defects are located in a region in close apposition to a myosin heavy chain head region by contrast to 3 other alpha-cardiac actin mutations (p.(Ala297Ser),p.(Asp313His) and p.(Arg314His)) which result in diverse cardiomyopathies and are located in a totally different interaction surface. | 26061005 | 2015 | ||||
|
0.460 | GeneticVariation | group | BEFREE | Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies. | 24736382 | 2014 | ||||
|
0.460 | GeneticVariation | group | BEFREE | Recently, mutations in myosin heavy chain (MYH7), cardiac actin (ACTC), and troponin T (TNNT2) were associated with left ventricular noncompaction, a form of cardiomyopathy characterized with hypertrabeculation that may also include reduced function of the left ventricle. | 20031619 | 2009 | ||||
|
0.460 | AlteredExpression | group | BEFREE | The combined results indicate, for the first time, that ACTC1 mutations or reduced ACTC1 levels may lead to ASD without signs of cardiomyopathy. | 17947298 | 2008 | ||||
|
0.460 | AlteredExpression | group | LHGDN | The combined results indicate, for the first time, that ACTC1 mutations or reduced ACTC1 levels may lead to ASD without signs of cardiomyopathy. | 17947298 | 2008 | ||||
|
0.460 | GeneticVariation | group | BEFREE | The defects in the cardiac actin (ACTC) gene can cause both cardiomyopathies. | 12075240 | 2002 | ||||
|
0.460 | GeneticVariation | group | BEFREE | ACTC is the first sarcomeric gene described in which mutations are responsible for 2 different cardiomyopathies. | 10330430 | 1999 | ||||
|
0.460 | CausalMutation | group | CLINVAR | |||||||
|
0.460 | Biomarker | group | GENOMICS_ENGLAND | |||||||
|
0.460 | GeneticVariation | group | CLINVAR |