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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Pdgfrb and infantile myofibromatosis 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 PDGFRB (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to infantile myofibromatosis  (DOID:0080109)
  • 75 papers in RGD have been used to annotate Pdgfrb
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Pdgfrb and infantile myofibromatosis in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Pdgfrb (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to infantile myofibromatosis  (DOID:0080109)
  • 75 papers in RGD have been used to annotate Pdgfrb
  • Curation Notes: OMIM:228550 | OMIM:615293


    • An association has been curated linking Pdgfrb and infantile myofibromatosis 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 PDGFRB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to infantile myofibromatosis  (DOID:0080109)
  • 75 papers in RGD have been used to annotate Pdgfrb
  • Curation Notes: ClinVar Annotator: match by term: Congenital generalized fibromatosis | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile
  • Original References(s): PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25292412 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28417142 PMID:28492532 PMID:28639748 PMID:30941910 PMID:31004414 PMID:31017643 PMID:31064749 PMID:31474318 PMID:34494111 PMID:9536098


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