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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Folr1 and cerebral folate receptor alpha deficiency in Mus musculus.        

  • 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 FOLR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 14 RGD objects have been annotated to cerebral folate receptor alpha deficiency  (DOID:0050719)
  • 12 papers in RGD have been used to annotate Folr1


    • An association has been curated linking Folr1 and cerebral folate receptor alpha deficiency in Mus musculus.        

  • 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 FOLR1 (Homo sapiens) [(EXP) inferred from experiment]
  • 14 RGD objects have been annotated to cerebral folate receptor alpha deficiency  (DOID:0050719)
  • 12 papers in RGD have been used to annotate Folr1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Folr1 and cerebral folate receptor alpha deficiency in Mus musculus.        

  • 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 FOLR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 14 RGD objects have been annotated to cerebral folate receptor alpha deficiency  (DOID:0050719)
  • 12 papers in RGD have been used to annotate Folr1
  • Curation Notes: ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
  • Original References(s): PMID:16199547 PMID:17576681 PMID:18842806 PMID:19732866 PMID:20018644 PMID:20683905 PMID:21752681 PMID:21937992 PMID:22586289 PMID:22695967 PMID:24091540 PMID:24556562 PMID:25741868 PMID:26467025 PMID:27328863 PMID:27535533 PMID:27781028 PMID:27884173 PMID:28054128 PMID:28492532 PMID:29661558 PMID:29961769 PMID:34008900 PMID:9536098


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