VCL, vinculin, 7414

N. diseases: 105; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
0.700 Biomarker disease GENOMICS_ENGLAND Genetics of hypertrophic cardiomyopathy: A review of current state. 28369730 2018
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
0.700 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
0.700 GeneticVariation disease UNIPROT A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy. 16712796 2006
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
0.700 Biomarker disease CTD_human
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
0.700 GeneticVariation disease CLINVAR
CUI: C1969639
Disease: Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1w
0.600 Biomarker disease GENOMICS_ENGLAND Genetics of hypertrophic cardiomyopathy: A review of current state. 28369730 2018
CUI: C1969639
Disease: Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1w
0.600 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1969639
Disease: Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1w
0.600 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
CUI: C1969639
Disease: Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1w
0.600 GeneticVariation disease UNIPROT Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. 16236538 2006
CUI: C1969639
Disease: Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1w
0.600 GeneticVariation disease UNIPROT Metavinculin mutations alter actin interaction in dilated cardiomyopathy. 11815424 2002
CUI: C1969639
Disease: Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1w
0.600 Biomarker disease CTD_human
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.440 GeneticVariation disease BEFREE We performed F-actin co-sedimentation and negative-stain EM experiments to dissect the coordinated roles of metavinculin and vinculin in actin fiber assembly and the effects of three known metavinculin CM mutations. 30844403 2019
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.440 Biomarker disease CLINGEN Differential lipid binding of vinculin isoforms promotes quasi-equivalent dimerization. 27503891 2016
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.440 Biomarker disease CLINGEN Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. 17097056 2006