DisGeNET - a database of gene-disease associations

VARS2, valyl-tRNA synthetase 2, mitochondrial, 57176

N. diseases: 37; N. variants: 21

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:

rs587777583

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C4014660
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

0.800

GeneticVariation

UNIPROT

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

25058219

2014

dbSNP:

rs587777583

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C4014660
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

0.800

GeneticVariation

UNIPROT

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

24827421

2014

dbSNP:

rs587777584

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C4014660
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

0.800

GeneticVariation

UNIPROT

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

24827421

2014

dbSNP:

rs587777584

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C4014660
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

0.800

GeneticVariation

UNIPROT

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

25058219

2014

dbSNP:

rs587777585

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C4014660
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

0.800

GeneticVariation

UNIPROT

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

25058219

2014

dbSNP:

rs587777585

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C4014660
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

0.800

GeneticVariation

UNIPROT

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

24827421

2014

dbSNP:

rs587777583

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C4014660
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777584

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C4014660
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777585

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C4014660
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

0.800

CausalMutation

CLINVAR

dbSNP:

rs753725

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0202239
Disease:

Uric acid measurement (procedure)

0.700

GeneticVariation

GWASCAT

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

31578528

2019

dbSNP:

rs114274879

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0149782
Disease:

Squamous cell carcinoma of lung

0.700

GeneticVariation

GWASCAT

Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

28604730

2017

dbSNP:

rs139515727

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

27502409

2017

dbSNP:

rs587777585

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

27502409

2017

dbSNP:

rs587777585

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

27502409

2017

dbSNP:

rs139515727

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

27290639

2016

dbSNP:

rs587777585

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

27290639

2016

dbSNP:

rs587777585

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

27290639

2016

dbSNP:

rs139515727

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

25058219

2014

dbSNP:

rs139515727

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

24827421

2014

dbSNP:

rs587777585

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

25058219

2014

dbSNP:

rs587777585

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

24827421

2014

dbSNP:

rs587777585

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

25058219

2014

dbSNP:

rs587777585

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

24827421

2014

dbSNP:

rs139515727

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Mitochondrial aminoacyl-tRNA synthetases in human disease.

23433712

2013

dbSNP:

rs587777585

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Mitochondrial aminoacyl-tRNA synthetases in human disease.

23433712

2013