MARS1, methionyl-tRNA synthetase 1, 4141

N. diseases: 66; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.730 GeneticVariation disease BEFREE Biallelic MARS mutations are associated with interstitial lung and liver disease (ILLD). 29655802 2018
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.730 GeneticVariation disease BEFREE Novel methionyl-tRNA synthetase gene variants/phenotypes in interstitial lung and liver disease: A case report and review of literature. 30271085 2018
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.730 GeneticVariation disease BEFREE Genotype-phenotype correlation analysis suggests most of the ILLD mutations locate in the catalytic domain of MARS. 28148924 2017
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.730 GermlineCausalMutation disease ORPHANET Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island. 25913036 2015
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.730 GeneticVariation disease UNIPROT Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island. 25913036 2015
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.730 GeneticVariation disease UNIPROT Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. 24103465 2013
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.730 GermlineCausalMutation disease ORPHANET Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. 24103465 2013
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.730 GeneticVariation disease CLINVAR
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.730 CausalMutation disease CLINVAR
CUI: C4225400
Disease: INTERSTITIAL LUNG AND LIVER DISEASE
INTERSTITIAL LUNG AND LIVER DISEASE 		0.730 Biomarker disease CTD_human
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.720 GeneticVariation disease BEFREE Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U. 29582526 2018
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.720 GeneticVariation disease BEFREE Heterozygous MARS mutations have been reported to cause Charcot-Marie-Tooth disease, axonal, type 2U (CMT2U). 28148924 2017
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.720 GeneticVariation disease UNIPROT Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy. 24354524 2014
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.720 GeneticVariation disease UNIPROT Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. 23729695 2013
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.720 GermlineCausalMutation disease ORPHANET Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. 23729695 2013
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.720 Biomarker disease CTD_human
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.720 CausalMutation disease CLINVAR
CUI: C4749431
Disease: Autosomal recessive spastic paraplegia type 70
Autosomal recessive spastic paraplegia type 70 		0.300 GermlineCausalMutation disease ORPHANET Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		0.140 GeneticVariation disease BEFREE Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis. 30723866 2019
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		0.140 Biomarker disease BEFREE Our results establish that the PAP-related substitutions in MetRS impact the tRNA<sup>Met</sup> -aminoacylation reaction especially at the level of methionine recognition, and suggest a direct link between the loss of activity of the enzyme and the pathological disorders in PAP. 29775242 2018
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		0.140 GeneticVariation disease BEFREE In addition, pulmonary alveolar proteinosis is associated with mutations in CSF2RA, CSF2RB, and MARS, and specific auto-inflammatory forms of chILD implicate STING and COPA disorders. 29517585 2018
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		0.140 GeneticVariation disease BEFREE In summary, identification of a founder mutation in MARS led to the molecular definition of a specific type of PAP and will enable carrier screening in the affected community and possibly open new treatment opportunities. 25913036 2015
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		0.140 Biomarker disease HPO
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		0.140 CausalMutation disease CLINVAR
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.120 Biomarker disease BEFREE Our findings underscore the phenotypic variability associated with ARS mutations, and suggest genetic or environmental modifying factors in the onset of monoallelic MARS-associated CMT2. 29655802 2018