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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Itpa and developmental and epileptic encephalopathy 35 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 ITPA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 35  (DOID:0080458)
  • 15 papers in RGD have been used to annotate Itpa


    • An association has been curated linking Itpa and developmental and epileptic encephalopathy 35 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 ITPA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 35  (DOID:0080458)
  • 15 papers in RGD have been used to annotate Itpa
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 35 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 35
  • Original References(s): PMID:12384777 PMID:16199547 PMID:20173735 PMID:20547162 PMID:21274861 PMID:22992668 PMID:25741868 PMID:25741905 PMID:26224535 PMID:26438033 PMID:26441325 PMID:26670100 PMID:28492532 PMID:30542205 PMID:30856165 PMID:32129147 PMID:35098521


    • An association has been curated linking Itpa and developmental and epileptic encephalopathy 35 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 ITPA (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 35  (DOID:0080458)
  • 15 papers in RGD have been used to annotate Itpa
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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