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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Gabra1 and developmental and epileptic encephalopathy 19 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with GABRA1 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 19  (DOID:0080431)
  • 36 papers in RGD have been used to annotate Gabra1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Gabra1 and developmental and epileptic encephalopathy 19 in Rattus norvegicus.        

  • 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 GABRA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 19  (DOID:0080431)
  • 36 papers in RGD have been used to annotate Gabra1
  • Qualifier: susceptibility


  • An association has been curated linking Gabra1 and developmental and epileptic encephalopathy 19 in Rattus norvegicus.        

  • 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 GABRA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 19  (DOID:0080431)
  • 36 papers in RGD have been used to annotate Gabra1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 19
  • Original References(s): PMID:16718694 PMID:18414213 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27353043 PMID:27521439 PMID:28492532 PMID:28554332 PMID:29389947 PMID:29655203 PMID:32047208 PMID:32238909


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