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GENE - TERM ANNOTATION REPORT

RGD ID: 1317292
Species: Homo sapiens
RGD Object: Gene
Symbol: GARS1
Name: glycyl-tRNA synthetase 1
Acc ID: DOID:0111203
Term: autosomal dominant distal hereditary motor neuronopathy 5
Definition: An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12690580 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22703882 "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
GARS1 IAGP 7240710OMIM  
GARS1 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:25741868 PMID:26467025 PMID:27582484 PMID:28492532 PMID:28594869
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:19329989 PMID:25741868 PMID:28492532
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: DHMN VAPMID:25614874 PMID:25741868 PMID:26467025 PMID:28492532
GARS1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:25741868 PMID:26467025 PMID:28492532
GARS1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:25741868 PMID:28492532
GARS1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:25741868
GARS1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A 
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:19329989 PMID:26467025 PMID:28160950 PMID:28492532
GARS1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:28492532
GARS1 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:26467025 PMID:28492532
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:16014653 PMID:17035524 PMID:20301420 PMID:24627108 PMID:25168514 PMID:28492532 PMID:29858556 PMID:31827005 PMID:31832804 PMID:31985473
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:17101916 PMID:17595294 PMID:20301420 PMID:24604904 PMID:25168514 PMID:25476837 PMID:26467025 PMID:28492532
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5PMID:23279345 PMID:24354524 PMID:25168514 PMID:26467025 PMID:27862672 PMID:28492532 PMID:29520015 PMID:30643024 PMID:31591847
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5PMID:17663003 PMID:20301420 PMID:25168514 PMID:28492532
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5PMID:25635128
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5PMID:23279345 PMID:25168514 PMID:26244500 PMID:28492532
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:25741868 PMID:26392352 PMID:28492532 PMID:31628756 PMID:31985473
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:25741868 PMID:33381078
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:25741868 PMID:26467025 PMID:28251916 PMID:29648643 PMID:32909314
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:27790088 PMID:28492532
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:28492532 PMID:32376792
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:17101916 PMID:24604904 PMID:25476837 PMID:25741868 PMID:28492532
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5PMID:25058219 PMID:28492532 PMID:29648643
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:12690580 PMID:20301420 PMID:26503042 PMID:8541851
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:12690580 PMID:20301420 PMID:25168514 PMID:26503042 PMID:9879677
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:12690580 PMID:16769947 PMID:17545306 PMID:17595294 PMID:20301420 PMID:27008886 PMID:28492532
GARS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5APMID:16534118 PMID:17595294 PMID:20301420 PMID:25168514 PMID:25476837 PMID:25741868
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