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
CUI: C2750459
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
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
CUI: C2750459
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
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
CUI: C2750459
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 		0.700 Biomarker disease GENOMICS_ENGLAND Genetics of hypertrophic cardiomyopathy: A review of current state. 28369730 2018
CUI: C2750459
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 		0.700 Biomarker disease CTD_human
CUI: C2750459
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 		0.700 GeneticVariation disease CLINVAR
CUI: C2750459
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 		0.700 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
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 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 Biomarker disease CTD_human
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 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 GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
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 Biomarker disease HPO
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 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 GeneticVariation disease LHGDN A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy. 16712796 2006
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related 		0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile 		0.300 Biomarker disease CTD_human Proteomic analysis of circulating monocytes in Chinese premenopausal females with extremely discordant bone mineral density. 18924182 2008
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation disease ORPHANET Metavinculin mutations alter actin interaction in dilated cardiomyopathy. 11815424 2002