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 Biomarker disease CTD_human
CUI: C2750459
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 		0.700 GeneticVariation disease CLINVAR
CUI: C1969639
Disease: Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1w 		0.600 Biomarker disease CTD_human
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 Biomarker disease HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.160 Biomarker group HPO
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.100 Biomarker phenotype HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.100 Biomarker disease HPO
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.100 Biomarker disease HPO
CUI: C0026848
Disease: Myopathy
Myopathy 		0.100 Biomarker group HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		0.100 Biomarker phenotype HPO
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0553980
Disease: Endomyocardial Fibrosis
Endomyocardial Fibrosis 		0.100 Biomarker phenotype HPO
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		0.100 Biomarker disease HPO
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		0.100 GeneticVariation disease CLINVAR
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.100 Biomarker disease HPO
CUI: C0013371
Disease: Shigella Infections
Shigella Infections 		0.030 Biomarker group BEFREE Shigella applies molecular mimicry to subvert vinculin and invade host cells. 17088427 2006
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.030 GeneticVariation disease BEFREE Renal cell carcinoma with novel VCL-ALK fusion: new representative of ALK-associated tumor spectrum. 21076462 2011
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.030 GeneticVariation disease BEFREE Renal cell carcinoma with novel VCL-ALK fusion: new representative of ALK-associated tumor spectrum. 21076462 2011
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: 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: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.040 GeneticVariation disease BEFREE Metavinculin mutations are pathogenic substrates for both HCM and DCM, further highlighting the allelic nature of these cardiomyopathies. 16236538 2006