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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pex5 and Zellweger syndrome 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 PEX5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 114 RGD objects have been annotated to Zellweger syndrome  (DOID:905)
  • 2 papers in RGD have been used to annotate Pex5
  • Curation Notes: ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum
  • Original References(s): PMID:18712838 PMID:21031596 PMID:25741868 PMID:26344566 PMID:28492532


    • An association has been curated linking Pex5 and Zellweger syndrome 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 PEX5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 114 RGD objects have been annotated to Zellweger syndrome  (DOID:905)
  • 2 papers in RGD have been used to annotate Pex5
  • Curation Notes: ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum
  • Original References(s): PMID:10462504 PMID:17532062 PMID:18712838 PMID:20681997 PMID:21031596 PMID:25741868 PMID:26344566 PMID:28492532 PMID:30561787 PMID:32901917 PMID:33584783 PMID:34645488 PMID:35346031


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