| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.370 | GeneticVariation | disease | BEFREE | In conclusion, our data suggests that human G247D ACTC1 mutation negatively regulates SRF-signaling likely contributing to the late-onset DCM observed in mutation carrier patients. | 31434612 | 2019 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | The ACTC1 gene was the first sarcomeric gene whose mutation was shown to cause DCM; recent studies have indicated that the HSPB7 and ZBTB17 genes are also associated with DCM. | 23570452 | 2013 | ||||
|
0.370 | 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 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | A group of 99 unrelated adult patients with DCM (familial n=27, sporadic n=72) were screened for the following genes: cardiac beta-myosin heavy chain, cardiac myosin-binding protein C (MYBPC3), regulatory and essential myosin light chains, alpha cardiac actin, alpha tropomyosin, cardiac troponin T, cardiac troponin I, cardiac troponin C, dystrophin, and lamin A/C. | 15671604 | 2005 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | To further test the hypothesis that mutations within functionally distinct domains of ACTC cause either DCM or HCM, we performed mutational analyses in 368 unrelated patients with familial or sporadic HCM. | 10966831 | 2000 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC. | 10330430 | 1999 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | Missense mutations in ACTC that cosegregate with IDC were identified in two unrelated families. | 9563954 | 1998 | ||||
|
0.370 | Biomarker | disease | CTD_human |