DisGeNET - a database of gene-disease associations

VCL, vinculin, 7414

N. diseases: 105; N. variants: 20

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs10824058

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1874148

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0428472
Disease:

Serum HDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs1874148

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0392885
Disease:

High density lipoprotein measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs1874148

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0202236
Disease:

Triglycerides measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs1874148

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0202117
Disease:

Low density lipoprotein cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs1874148

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C1445957
Disease:

Serum total cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs1874148

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0428474
Disease:

Serum LDL cholesterol measurement

0.700

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012

dbSNP:

rs727504381

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0007193
Disease:

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Cardiac-myocyte-specific excision of the vinculin gene disrupts cellular junctions, causing sudden death or dilated cardiomyopathy.

17785437

2007

dbSNP:

rs779488376

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0007193
Disease:

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Cardiac-myocyte-specific excision of the vinculin gene disrupts cellular junctions, causing sudden death or dilated cardiomyopathy.

17785437

2007

dbSNP:

rs121917776

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C1969639
Disease:

Cardiomyopathy, Dilated, 1w

0.700

GeneticVariation

UNIPROT

Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy.

16236538

2006

dbSNP:

rs397517244

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0007193
Disease:

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc.

16949038

2006

dbSNP:

rs121917776

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C1969639
Disease:

Cardiomyopathy, Dilated, 1w

0.700

GeneticVariation

UNIPROT

Metavinculin mutations alter actin interaction in dilated cardiomyopathy.

11815424

2002

dbSNP:

rs1564526327

Entrez Id:	7414;107984244
Gene Symbol:	VCL;LOC107984244

VCL;LOC107984244

CUI:	C0878544
Disease:

Cardiomyopathies

0.700

GeneticVariation

CLINVAR

dbSNP:

rs397517245

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0007193
Disease:

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs71579353

Entrez Id:	7414;107984244
Gene Symbol:	VCL;LOC107984244

VCL;LOC107984244

CUI:	C2750459
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15

0.700

GeneticVariation

UNIPROT

dbSNP:

rs727503738

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0007193
Disease:

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727503741

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C1960469
Disease:

Left ventricular noncompaction

0.700

GeneticVariation

CLINVAR

dbSNP:

rs727503741

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0007193
Disease:

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs781036800

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0007193
Disease:

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs863225121

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C2750459
Disease:

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15

0.700

GeneticVariation

CLINVAR

dbSNP:

rs876657674

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0007193
Disease:

Cardiomyopathy, Dilated

0.700

GeneticVariation

CLINVAR

dbSNP:

rs121917776

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0007193
Disease:

Cardiomyopathy, Dilated

0.030

GeneticVariation

BEFREE

Here, we demonstrate that the metavinculin-specific helix H1' plays an important role for protein stability of the tail domain, since a point mutation in this helix, R975W, which is associated with the occurrence of dilated cardiomyopathy in man, further decreases thermal stability of the metavinculin tail domain.

23159629

2013

dbSNP:

rs121917776

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0007193
Disease:

Cardiomyopathy, Dilated

0.030

GeneticVariation

BEFREE

Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy.

16236538

2006

dbSNP:

rs121917776

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C0007193
Disease:

Cardiomyopathy, Dilated

0.030

GeneticVariation

BEFREE

The R975W mutation, in the alternatively spliced exon 19 of vinculin (VCL) which yields the isoform metavinculin, was associated previously with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), and shown to alter in vivo organization of intercalated discs.

16712796

2006

dbSNP:

rs774870551

Entrez Id:	7414
Gene Symbol:	VCL

VCL

CUI:	C1142166
Disease:

Brugada Syndrome (disorder)

0.020

GeneticVariation

BEFREE

A rare heterozygous variant VCL-M94I was found in a SUNDS victim who suffered sudden nocturnal tachypnea and lacked pathogenic variants in known arrhythmia-causing genes.

28218286

2017