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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking PDGFRB and Kosaki Overgrowth Syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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.
  • 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)
  • 45 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 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)
  • 76 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 Mus musculus.        

  • 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)
  • 48 papers in RGD have been used to annotate Pdgfrb
  • Curation Notes: DNA:mutation:cds:c.1696T>C p.W566R(human)


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