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

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:

rs139515727

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C4014660
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1554268077

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C4014660
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

0.700

GeneticVariation

CLINVAR

dbSNP:

rs775439829

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C4014660
Disease:

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1264302

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.700

GeneticVariation

GWASDB

TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

17804836

2007

dbSNP:

rs1264303

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.700

GeneticVariation

GWASDB

TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

17804836

2007

dbSNP:

rs2074506

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.700

GeneticVariation

GWASDB

TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

17804836

2007

dbSNP:

rs4678

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0011854
Disease:

Diabetes Mellitus, Insulin-Dependent

0.700

GeneticVariation

GWASDB

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

17632545

2007

dbSNP:

rs753725

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.700

GeneticVariation

GWASDB

TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

17804836

2007

dbSNP:

rs1264302

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.700

GeneticVariation

GWASDB

REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

19503088

2009

dbSNP:

rs1264303

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.700

GeneticVariation

GWASDB

REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

19503088

2009

dbSNP:

rs2074506

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.700

GeneticVariation

GWASDB

REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

19503088

2009

dbSNP:

rs753725

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0003873
Disease:

Rheumatoid Arthritis

0.700

GeneticVariation

GWASDB

REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

19503088

2009

dbSNP:

rs3218822

Entrez Id:	2968;57176
Gene Symbol:	GTF2H4;VARS2

GTF2H4;VARS2

CUI:	C0042900
Disease:

Vitiligo

0.700

GeneticVariation

GWASDB

Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.

20526339

2010

dbSNP:

rs139515727

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Human diseases with impaired mitochondrial protein synthesis.

21708121

2011

dbSNP:

rs587777585

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Human diseases with impaired mitochondrial protein synthesis.

21708121

2011

dbSNP:

rs587777585

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Human diseases with impaired mitochondrial protein synthesis.

21708121

2011

dbSNP:

rs2074511

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0678222
Disease:

Breast Carcinoma

0.010

GeneticVariation

BEFREE

In particular, the VARS2 rs2074511 polymorphism was only associated with survival in patients with triple negative (TN)-type breast cancer (P=0.018 for DFS and 0.042 for DDFS, respectively).

20503108

2011

dbSNP:

rs2074511

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.010

GeneticVariation

BEFREE

In particular, the VARS2 rs2074511 polymorphism was only associated with survival in patients with triple negative (TN)-type breast cancer (P=0.018 for DFS and 0.042 for DDFS, respectively).

20503108

2011

dbSNP:

rs4678

Entrez Id:	57176
Gene Symbol:	VARS2

VARS2

CUI:	C0026896
Disease:

Myasthenia Gravis

0.700

GeneticVariation

GWASDB

Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

23055271

2012

dbSNP:

rs1264307

Entrez Id:	2968;57176
Gene Symbol:	GTF2H4;VARS2

GTF2H4;VARS2

CUI:	C3853540
Disease:

Aspirin exacerbated respiratory disease

0.010

GeneticVariation

BEFREE

As a result, when adjusted for age, gender, smoking status and atopy as covariates, the rs1264307 variant and two haplotypes showed nominal signals in the association with AERD (P = 0.02-0.04), but the significances disappeared after corrections for multiple testing (corrected P > 0.05).

22524621

2012

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