Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.480 | GeneticVariation | group | BEFREE | Cardiomyopathy Mutations in Metavinculin Disrupt Regulation of Vinculin-Induced F-Actin Assemblies. | 30844403 | 2019 | ||||
|
0.480 | GeneticVariation | group | BEFREE | Mutations in the MVcn insert are linked to various cardiomyopathies. | 31483833 | 2019 | ||||
|
0.480 | GeneticVariation | group | BEFREE | We have identified the cardiomyopathy-susceptibility gene vinculin (<i>VCL</i>) mutation M94I may account for a sudden unexplained nocturnal death syndrome (SUNDS) case. | 28373245 | 2017 | ||||
|
0.480 | Biomarker | group | BEFREE | Vinculin (VCL) was linked to sudden arrhythmia death in VCL knockout mice prior to the appearance of cardiomyopathy. | 28218286 | 2017 | ||||
|
0.480 | GeneticVariation | group | BEFREE | The VCL-encoding protein was involved in cardiomyopathy that associated with hypertension, therefore our results suggest the rs4746172 of VCL may be a novel target for clinical interventions to reduce CVD risk by regulating blood pressure in male Chinese. | 26487440 | 2015 | ||||
|
0.480 | GeneticVariation | group | BEFREE | Finally, the cardiomyopathy associated DeltaLeu954 and Arg975Trp metavinculin mutants reside on the replaced extended coil and the H1' alpha-helix, respectively. | 20502710 | 2010 | ||||
|
0.480 | GeneticVariation | group | BEFREE | Metavinculin mutations are pathogenic substrates for both HCM and DCM, further highlighting the allelic nature of these cardiomyopathies. | 16236538 | 2006 | ||||
|
0.480 | GeneticVariation | group | BEFREE | We provide the first report of a cardiomyopathy associated mutation in vinculin. | 16712796 | 2006 | ||||
|
0.480 | GeneticVariation | group | CLINVAR | |||||||
|
0.480 | Biomarker | group | GENOMICS_ENGLAND |