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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Agps and rhizomelic chondrodysplasia punctata type 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with AGPS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to rhizomelic chondrodysplasia punctata type 3  (DOID:0110853)
  • 16 papers in RGD have been used to annotate Agps


  • An association has been curated linking Agps and rhizomelic chondrodysplasia punctata type 3 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]
  • 1 RGD objects have been annotated to rhizomelic chondrodysplasia punctata type 3  (DOID:0110853)
  • 16 papers in RGD have been used to annotate Agps
  • Curation Notes: ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 3
  • Original References(s): PMID:11152660 PMID:18414213 PMID:21990100 PMID:24033266 PMID:25741868 PMID:28492532 PMID:7807941 PMID:9553082


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