DisGeNET - a database of gene-disease associations

MARS1, methionyl-tRNA synthetase 1, 4141

N. diseases: 66; N. variants: 11

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:

rs140467171

Entrez Id:	4141
Gene Symbol:	MARS1

MARS1

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.800

GeneticVariation

UNIPROT

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

25913036

2015

dbSNP:

rs756021768

Entrez Id:	4141;102465454
Gene Symbol:	MARS1;MIR6758

MARS1;MIR6758

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.800

GeneticVariation

UNIPROT

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

25913036

2015

dbSNP:

rs766466297

Entrez Id:	4141
Gene Symbol:	MARS1

MARS1

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.800

GeneticVariation

UNIPROT

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

25913036

2015

dbSNP:

rs781249411

Entrez Id:	4141
Gene Symbol:	MARS1

MARS1

CUI:	C4084821
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U

0.800

GeneticVariation

UNIPROT

Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy.

24354524

2014

dbSNP:

rs140467171

Entrez Id:	4141
Gene Symbol:	MARS1

MARS1

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.800

GeneticVariation

UNIPROT

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.

24103465

2013

dbSNP:

rs756021768

Entrez Id:	4141;102465454
Gene Symbol:	MARS1;MIR6758

MARS1;MIR6758

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.800

GeneticVariation

UNIPROT

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.

24103465

2013

dbSNP:

rs766466297

Entrez Id:	4141
Gene Symbol:	MARS1

MARS1

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.800

GeneticVariation

UNIPROT

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.

24103465

2013

dbSNP:

rs781249411

Entrez Id:	4141
Gene Symbol:	MARS1

MARS1

CUI:	C4084821
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U

0.800

GeneticVariation

UNIPROT

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.

23729695

2013

dbSNP:

rs140467171

Entrez Id:	4141
Gene Symbol:	MARS1

MARS1

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.800

CausalMutation

CLINVAR

dbSNP:

rs201555303

Entrez Id:	4141;102465454
Gene Symbol:	MARS1;MIR6758

MARS1;MIR6758

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.800

CausalMutation

CLINVAR

dbSNP:

rs201555303

Entrez Id:	4141;102465454
Gene Symbol:	MARS1;MIR6758

MARS1;MIR6758

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.800

GeneticVariation

UNIPROT

dbSNP:

rs756021768

Entrez Id:	4141;102465454
Gene Symbol:	MARS1;MIR6758

MARS1;MIR6758

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.800

CausalMutation

CLINVAR

dbSNP:

rs766466297

Entrez Id:	4141
Gene Symbol:	MARS1

MARS1

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.800

CausalMutation

CLINVAR

dbSNP:

rs781249411

Entrez Id:	4141
Gene Symbol:	MARS1

MARS1

CUI:	C4084821
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U

0.800

CausalMutation

CLINVAR

dbSNP:

rs143592405

Entrez Id:	4141;102465454
Gene Symbol:	MARS1;MIR6758

MARS1;MIR6758

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.700

GeneticVariation

UNIPROT

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.

25913036

2015

dbSNP:

rs587777718

Entrez Id:	4141;102465454
Gene Symbol:	MARS1;MIR6758

MARS1;MIR6758

CUI:	C4084821
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U

0.700

GeneticVariation

UNIPROT

Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy.

24354524

2014

dbSNP:

rs143592405

Entrez Id:	4141;102465454
Gene Symbol:	MARS1;MIR6758

MARS1;MIR6758

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.700

GeneticVariation

UNIPROT

Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.

24103465

2013

dbSNP:

rs587777718

Entrez Id:	4141;102465454
Gene Symbol:	MARS1;MIR6758

MARS1;MIR6758

CUI:	C4084821
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U

0.700

GeneticVariation

UNIPROT

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.

23729695

2013

dbSNP:

rs141340466

Entrez Id:	4141
Gene Symbol:	MARS1

MARS1

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.700

GeneticVariation

UNIPROT

dbSNP:

rs756021768

Entrez Id:	4141;102465454
Gene Symbol:	MARS1;MIR6758

MARS1;MIR6758

CUI:	C0034050
Disease:

Pulmonary Alveolar Proteinosis

0.700

CausalMutation

CLINVAR

dbSNP:

rs758523839

Entrez Id:	4141
Gene Symbol:	MARS1

MARS1

CUI:	C4225400
Disease:

INTERSTITIAL LUNG AND LIVER DISEASE

0.700

GeneticVariation

CLINVAR

dbSNP:

rs781249411

Entrez Id:	4141
Gene Symbol:	MARS1

MARS1

CUI:	C0007959
Disease:

Charcot-Marie-Tooth Disease

0.700

CausalMutation

CLINVAR

dbSNP:

rs779695088

Entrez Id:	1649;4141
Gene Symbol:	DDIT3;MARS1

DDIT3;MARS1

CUI:	C0206634
Disease:

Liposarcoma, Myxoid

0.010

GeneticVariation

BEFREE

The recently described hotspot mutation in the TERT promoter region in myxoid liposarcomas was also found at C228T in DL-221.

27270875

2016

dbSNP:

rs11544238

Entrez Id:	4141;64333
Gene Symbol:	MARS1;ARHGAP9

MARS1;ARHGAP9

CUI:	C0010073
Disease:

Coronary Artery Vasospasm

0.010

GeneticVariation

BEFREE

The Ala370Ser polymorphism in the ARHGAP9 gene is associated with coronary artery spasm.

19911011

2010