VCL, vinculin, 7414

N. diseases: 105; N. variants: 20
Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.480 GeneticVariation group BEFREE Cardiomyopathy Mutations in Metavinculin Disrupt Regulation of Vinculin-Induced F-Actin Assemblies. 30844403 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.480 GeneticVariation group BEFREE Mutations in the MVcn insert are linked to various cardiomyopathies. 31483833 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		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
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.480 GeneticVariation group BEFREE We provide the first report of a cardiomyopathy associated mutation in vinculin. 16712796 2006
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.480 GeneticVariation group CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.480 Biomarker group GENOMICS_ENGLAND