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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Abat and GABA aminotransferase deficiency in Ictidomys tridecemlineatus.        

  • 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 ABAT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to GABA aminotransferase deficiency  (DOID:0060174)
  • 0 papers in RGD have been used to annotate Abat


    • An association has been curated linking Abat and GABA aminotransferase deficiency in Ictidomys tridecemlineatus.        

  • 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 ABAT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to GABA aminotransferase deficiency  (DOID:0060174)
  • 0 papers in RGD have been used to annotate Abat
  • Curation Notes: ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency
  • Original References(s): PMID:10407778 PMID:15642443 PMID:16199547 PMID:17576681 PMID:20052547 PMID:25640679 PMID:25738457 PMID:25741868 PMID:26467025 PMID:27596361 PMID:27903293 PMID:28411234 PMID:28492532 PMID:29302074 PMID:30617166 PMID:31130284 PMID:31133775 PMID:38177409 PMID:6148708 PMID:9536098


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