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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Pex7 and Refsum disease 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 PEX7 (Homo sapiens) [(EXP) inferred from experiment]
  • 82 RGD objects have been annotated to Refsum disease  (DOID:10582)
  • 9 papers in RGD have been used to annotate Pex7
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:12522768


    • An association has been curated linking Pex7 and Refsum disease 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 PEX7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 82 RGD objects have been annotated to Refsum disease  (DOID:10582)
  • 9 papers in RGD have been used to annotate Pex7
  • Curation Notes: ClinVar Annotator: match by term: Phytanic acid storage disease
  • Original References(s): PMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:14974078 PMID:1773541 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:23572185 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26467025 PMID:26587300 PMID:28492532 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9686382


    • An association has been curated linking Pex7 and Refsum disease 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 PEX7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 82 RGD objects have been annotated to Refsum disease  (DOID:10582)
  • 9 papers in RGD have been used to annotate Pex7
  • Curation Notes: ClinVar Annotator: match by term: Phytanic acid storage disease
  • Original References(s): PMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:14974078 PMID:16199547 PMID:17576681 PMID:1773541 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:23572185 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532 PMID:31964843 PMID:31980526 PMID:32483926 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9536098 PMID:9686382


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