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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Fgfr2 and Bent Bone Dysplasia Syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Merrill AE, etal., Am J Hum Genet. 2012 Mar 9;90(3):550-7. doi: 10.1016/j.ajhg.2012.02.005. Epub 2012 Mar 1.
  • The annotation has been inferred from sequence orthology with FGFR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 additional annotations were made from Merrill AE, etal., Am J Hum Genet. 2012 Mar 9;90(3):550-7. doi: 10.1016/j.ajhg.2012.02.005. Epub 2012 Mar 1.
  • 1 RGD objects have been annotated to Bent Bone Dysplasia Syndrome  (DOID:9001258)
  • 76 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: DNA:missense mutations:cds:p.M391R, p.Y381D (human)


  • An association has been curated linking Fgfr2 and Bent Bone Dysplasia 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 FGFR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Bent Bone Dysplasia Syndrome  (DOID:9001258)
  • 76 papers in RGD have been used to annotate Fgfr2


  • An association has been curated linking Fgfr2 and Bent Bone Dysplasia 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 FGFR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Bent Bone Dysplasia Syndrome  (DOID:9001258)
  • 76 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: ClinVar Annotator: match by OMIM:614592
  • Original References(s): PMID:22387015


  • An association has been curated linking Fgfr2 and Bent Bone Dysplasia 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 FGFR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Bent Bone Dysplasia Syndrome  (DOID:9001258)
  • 76 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: ClinVar Annotator: match by term: Bent bone dysplasia syndrome
  • Original References(s): PMID:16158432, PMID:16838304, PMID:24127277, PMID:25271085, PMID:25741868, PMID:28492532, PMID:7558045, PMID:7773284, PMID:7874170, PMID:7987400, PMID:8957519


  • An association has been curated linking Fgfr2 and Bent Bone Dysplasia 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 FGFR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Bent Bone Dysplasia Syndrome  (DOID:9001258)
  • 76 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: ClinVar Annotator: match by term: Bent bone dysplasia syndrome
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Fgfr2 and Bent Bone Dysplasia 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 FGFR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Bent Bone Dysplasia Syndrome  (DOID:9001258)
  • 76 papers in RGD have been used to annotate Fgfr2
  • Curation Notes: ClinVar Annotator: match by term: Bent bone dysplasia syndrome
  • Original References(s): PMID:10851026, PMID:11121055, PMID:11390973, PMID:12124745, PMID:14499350, PMID:15975938, PMID:16440883, PMID:17525745, PMID:18552176, PMID:20301628, PMID:21367659, PMID:22238366, PMID:22664175, PMID:23002168, PMID:23495007, PMID:23546041, PMID:24489893, PMID:25157968, PMID:25741868, PMID:25867380, PMID:26380986, PMID:26619011, PMID:28492532, PMID:31145570, PMID:7719344, PMID:8651276, PMID:9462761, PMID:9719378


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.