MARS1, methionyl-tRNA synthetase 1, 4141

N. diseases: 66; N. variants: 11
Disease: INTERSTITIAL LUNG AND LIVER DISEASE ×
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