VCL, vinculin, 7414

N. diseases: 105; N. variants: 20
Disease: Hypertrophic Cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.440 GeneticVariation disease BEFREE Despite its ubiquitous expression, the HCM-associated VCL mutation clinically yielded a cardiac-specific phenotype. 16712796 2006
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.440 GeneticVariation disease BEFREE Thirteen of the 239 patients (5.4%) had one of 13 distinct HCM-associated Z-disc mutations involving residues highly conserved across species and absent in 600 reference alleles: LDB3 (6), ACTN2 (3), TCAP (1), CSRP3 (1), and VCL (2). 17097056 2006
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.440 GeneticVariation disease BEFREE Metavinculin mutations are pathogenic substrates for both HCM and DCM, further highlighting the allelic nature of these cardiomyopathies. 16236538 2006
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.440 Biomarker disease CLINGEN Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc. 16949038 2006
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.440 GeneticVariation disease LHGDN A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy. 16712796 2006
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.440 Biomarker disease HPO