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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Pdgfrb and Kosaki Overgrowth Syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Minatogawa M, etal., Am J Med Genet A. 2017 Sep;173(9):2422-2427. doi: 10.1002/ajmg.a.38310. Epub 2017 Jun 22.
  • The annotation has been inferred from sequence orthology with PDGFRB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Minatogawa M, etal., Am J Med Genet A. 2017 Sep;173(9):2422-2427. doi: 10.1002/ajmg.a.38310. Epub 2017 Jun 22.
  • 1 RGD objects have been annotated to Kosaki Overgrowth Syndrome  (DOID:9002509)
  • 75 papers in RGD have been used to annotate Pdgfrb
  • Curation Notes: DNA:mutation:cds:c.1696T>C p.W566R(human)


    • An association has been curated linking Pdgfrb and Kosaki Overgrowth Syndrome 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 PDGFRB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Kosaki Overgrowth Syndrome  (DOID:9002509)
  • 75 papers in RGD have been used to annotate Pdgfrb


    • An association has been curated linking Pdgfrb and Kosaki Overgrowth 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 PDGFRB (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Kosaki Overgrowth Syndrome  (DOID:9002509)
  • 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 Kosaki Overgrowth 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 PDGFRB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Kosaki Overgrowth Syndrome  (DOID:9002509)
  • 75 papers in RGD have been used to annotate Pdgfrb
  • Curation Notes: ClinVar Annotator: match by term: Kosaki overgrowth syndrome | ClinVar Annotator: match by term: SKELETAL OVERGROWTH WITH FACIAL DYSMORPHISM, HYPERELASTIC SKIN, WHITE MATTER LESIONS, AND NEUROLOGIC DETERIORATION
  • Original References(s): PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25292412 PMID:25454926 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28417142 PMID:28492532 PMID:28639748 PMID:29226947 PMID:30941910 PMID:31004414 PMID:31064749 PMID:31474318 PMID:34494111 PMID:9536098


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