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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Agps and rhizomelic chondrodysplasia punctata in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from de Vet EC, etal., J Biol Chem 1998 Apr 24;273(17):10296-301.
  • The annotation has been inferred from sequence orthology with AGPS (Homo sapiens) [(IDA) inferred from direct assay]
  • 2 additional annotations were made from de Vet EC, etal., J Biol Chem 1998 Apr 24;273(17):10296-301.
  • 4 RGD objects have been annotated to rhizomelic chondrodysplasia punctata  (DOID:2580)
  • 16 papers in RGD have been used to annotate Agps


    • An association has been curated linking Agps and rhizomelic chondrodysplasia punctata 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 AGPS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to rhizomelic chondrodysplasia punctata  (DOID:2580)
  • 16 papers in RGD have been used to annotate Agps
  • Curation Notes: ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata
  • Original References(s): PMID:17576681 PMID:18414213 PMID:25741868 PMID:28492532 PMID:9536098


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