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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking PHOX2A and cerebral folate receptor alpha deficiency in Pan paniscus.        

  • 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 PHOX2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to cerebral folate receptor alpha deficiency  (DOID:0050719)
  • 0 papers in RGD have been used to annotate PHOX2A
  • Curation Notes: ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency
  • Original References(s): PMID:19732866 PMID:22586289 PMID:28492532


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