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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Fgfr1 and craniosynostosis in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
  •  
  • The annotation was made from Zhou YX, etal., Hum Mol Genet. 2000 Aug 12;9(13):2001-8.
  • 2 additional annotations were made from Zhou YX, etal., Hum Mol Genet. 2000 Aug 12;9(13):2001-8.
  • 171 RGD objects have been annotated to craniosynostosis  (DOID:2340)
  • 61 papers in RGD have been used to annotate Fgfr1
  • Curation Notes: DNA:missense mutation:exon:p.P250R (mouse)

  • This annotation was curated on 2018-05-12 09:01:13.0 by RGD . For more information contact us

    An association has been curated linking Fgfr1 and craniosynostosis in Mus musculus.        

  • 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 FGFR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 171 RGD objects have been annotated to craniosynostosis  (DOID:2340)
  • 61 papers in RGD have been used to annotate Fgfr1
  • Curation Notes: ClinVar Annotator: match by term: Craniostenosis
  • Original References(s): PMID:20696889, PMID:23329143, PMID:28492532

  • This annotation was curated on 2020-01-07 06:56:38.0 by RGD . For more information contact us

    An association has been curated linking Fgfr1 and craniosynostosis in Mus musculus.        

  • 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 FGFR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 171 RGD objects have been annotated to craniosynostosis  (DOID:2340)
  • 61 papers in RGD have been used to annotate Fgfr1
  • Curation Notes: ClinVar Annotator: match by term: Craniostenosis
  • Original References(s): PMID:25741868, PMID:28492532

  • This annotation was curated on 2020-01-07 06:56:42.0 by RGD . For more information contact us

    An association has been curated linking Fgfr1 and craniosynostosis in Mus musculus.        

  • 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 FGFR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 171 RGD objects have been annotated to craniosynostosis  (DOID:2340)
  • 61 papers in RGD have been used to annotate Fgfr1
  • Curation Notes: ClinVar Annotator: match by term: Craniostenosis
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-01-07 07:03:26.0 by RGD . For more information contact us

    An association has been curated linking Fgfr1 and craniosynostosis in Mus musculus.        

  • 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 FGFR1 (Homo sapiens) [(EXP) inferred from experiment]
  • 171 RGD objects have been annotated to craniosynostosis  (DOID:2340)
  • 61 papers in RGD have been used to annotate Fgfr1
  • Curation Notes: CTD Direct Evidence: marker/mechanism

  • This annotation was curated on 2020-01-07 04:50:39.0 by RGD . For more information contact us

    An association has been curated linking Fgfr1 and craniosynostosis in Mus musculus.        

  • 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 FGFR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 171 RGD objects have been annotated to craniosynostosis  (DOID:2340)
  • 61 papers in RGD have been used to annotate Fgfr1
  • Curation Notes: ClinVar Annotator: match by term: Craniostenosis

  • This annotation was curated on 2020-01-07 07:03:26.0 by RGD . For more information contact us

    An association has been curated linking Fgfr1 and craniosynostosis in Mus musculus.        

  • 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 FGFR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 171 RGD objects have been annotated to craniosynostosis  (DOID:2340)
  • 61 papers in RGD have been used to annotate Fgfr1
  • Curation Notes: ClinVar Annotator: match by term: Craniosynostosis
  • Original References(s): PMID:16764984, PMID:17963255, PMID:20696889, PMID:26467025, PMID:28492532

  • This annotation was curated on 2020-01-07 07:03:21.0 by RGD . For more information contact us

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