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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Pex12 and Zellweger syndrome 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 PEX12 (Homo sapiens) [(EXP) inferred from experiment]
  • 115 RGD objects have been annotated to Zellweger syndrome  (DOID:905)
  • 15 papers in RGD have been used to annotate Pex12
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:9090384 PMID:26319495


    • An association has been curated linking Pex12 and Zellweger syndrome 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 PEX12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 115 RGD objects have been annotated to Zellweger syndrome  (DOID:905)
  • 15 papers in RGD have been used to annotate Pex12
  • Curation Notes: ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum
  • Original References(s): PMID:10527683 PMID:10837480 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15542397 PMID:16199547 PMID:17576681 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:24627108 PMID:25287621 PMID:25741868 PMID:26094004 PMID:28492532 PMID:29389947 PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857


    • An association has been curated linking Pex12 and Zellweger syndrome 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 PEX12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 115 RGD objects have been annotated to Zellweger syndrome  (DOID:905)
  • 15 papers in RGD have been used to annotate Pex12
  • Curation Notes: ClinVar Annotator: match by term: Peroxisome biogenesis disorder
  • Original References(s): PMID:10527683 PMID:10837480 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15542397 PMID:16199547 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:24627108 PMID:25287621 PMID:25741868 PMID:26094004 PMID:28492532 PMID:29389947 PMID:9090384 PMID:9632816 PMID:9792857


    • An association has been curated linking Pex12 and Zellweger syndrome 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 PEX12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 115 RGD objects have been annotated to Zellweger syndrome  (DOID:905)
  • 15 papers in RGD have been used to annotate Pex12
  • Curation Notes: ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum
  • Original References(s): PMID:10527683 PMID:10562279 PMID:10837480 PMID:12032265 PMID:14571262 PMID:14630978 PMID:15184617 PMID:15241794 PMID:15542397 PMID:16199547 PMID:17576681 PMID:19105186 PMID:19127411 PMID:19877282 PMID:21031596 PMID:21465523 PMID:24627108 PMID:25287621 PMID:25741868 PMID:26094004 PMID:28492532 PMID:29389947 PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857


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