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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Phactr1 and developmental and epileptic encephalopathy 70 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 PHACTR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to developmental and epileptic encephalopathy 70  (DOID:0112206)
  • 1 papers in RGD have been used to annotate Phactr1


    • An association has been curated linking Phactr1 and developmental and epileptic encephalopathy 70 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 PHACTR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to developmental and epileptic encephalopathy 70  (DOID:0112206)
  • 1 papers in RGD have been used to annotate Phactr1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70
  • Original References(s): PMID:23033978 PMID:25741868 PMID:30256902 PMID:33463715


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