VCL, vinculin, 7414

N. diseases: 105; N. variants: 20
Disease: Cardiomyopathy, Dilated, 1w ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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