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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking ASNS and Asparagine Synthetase Deficiency in Pan paniscus.        

  • 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 ASNS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Asparagine Synthetase Deficiency  (DOID:9002524)
  • 0 papers in RGD have been used to annotate ASNS


  • An association has been curated linking ASNS and Asparagine Synthetase Deficiency in Pan paniscus.        

  • 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 ASNS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Asparagine Synthetase Deficiency  (DOID:9002524)
  • 0 papers in RGD have been used to annotate ASNS
  • Curation Notes: ClinVar Annotator: match by term: ASNS DEFICIENCY | ClinVar Annotator: match by term: ASNS-related condition | ClinVar Annotator: match by term: Asparagine synthetase deficiency
  • Original References(s): PMID:16199547 PMID:24139043 PMID:25227173 PMID:25663424 PMID:25741868 PMID:25741905 PMID:25758715 PMID:26395554 PMID:27422383 PMID:27469131 PMID:27522229 PMID:27711071 PMID:28492532 PMID:28776279 PMID:29279279 PMID:29302074 PMID:29375865 PMID:29405484 PMID:30057589 PMID:30214071 PMID:30978478 PMID:31130284 PMID:32255274 PMID:32741967 PMID:32906196 PMID:33258288 PMID:33287870 PMID:34490615 PMID:34582790 PMID:34906502 PMID:35469797 PMID:36344539 PMID:36374791


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