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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Gars1 and autosomal dominant distal hereditary motor neuronopathy 5 in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with GARS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 5  (DOID:0111203)
  • 2 papers in RGD have been used to annotate Gars1


  • An association has been curated linking Gars1 and autosomal dominant distal hereditary motor neuronopathy 5 in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with GARS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to autosomal dominant distal hereditary motor neuronopathy 5  (DOID:0111203)
  • 2 papers in RGD have been used to annotate Gars1
  • Curation Notes: ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
  • Original References(s): PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17035524 PMID:17101916 PMID:17545306 PMID:17595294 PMID:17663003 PMID:19329989 PMID:20301420 PMID:23279345 PMID:24354524 PMID:24604904 PMID:24627108 PMID:25058219 PMID:25168514 PMID:25476837 PMID:25614874 PMID:25635128 PMID:25741868 PMID:26244500 PMID:26392352 PMID:26467025 PMID:26503042 PMID:27008886 PMID:27582484 PMID:27790088 PMID:27862672 PMID:28160950 PMID:28251916 PMID:28492532 PMID:28594869 PMID:29520015 PMID:29648643 PMID:29858556 PMID:30643024 PMID:31591847 PMID:31628756 PMID:31827005 PMID:31832804 PMID:31985473 PMID:32376792 PMID:32909314 PMID:33381078 PMID:8541851 PMID:9879677


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