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GENE - TERM ANNOTATION REPORT

RGD ID: 1305321
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mars1
Name: methionyl-tRNA synthetase 1
Acc ID: DOID:9002394
Term: INTERSTITIAL LUNG AND LIVER DISEASE
Definition: An autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood.
Definition Source(s): OMIM:615486
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13132807240710OMIM  
 ISORGD:13132808554872ClinVarClinVar Annotator: match by term: Interstitial lung and liver disease

PMID:23729695
 ISORGD:13132808554872ClinVarClinVar Annotator: match by term: Interstitial lung and liver disease

PMID:24103465
 ISORGD:13132808554872ClinVarClinVar Annotator: match by term: Interstitial lung and liver disease

PMID:25741868, PMID:25913036, PMID:28492532
 ISORGD:13132808554872ClinVarClinVar Annotator: match by term: Interstitial lung and liver disease

PMID:25913036
 ISORGD:13132808554872ClinVarClinVar Annotator: match by term: Interstitial lung and liver disease

PMID:28492532
 ISORGD:13132808554872ClinVarClinVar Annotator: match by term: MARS-Related Disorder

 
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.