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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Fgfr1 and Encephalocraniocutaneous Lipomatosis 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 FGFR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Encephalocraniocutaneous Lipomatosis  (DOID:9007632)
  • 99 papers in CRRD have been used to annotate Fgfr1
  • Curation Notes: ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis
  • Original References(s): PMID:25705862, PMID:26619011, PMID:26942290


  • An association has been curated linking Fgfr1 and Encephalocraniocutaneous Lipomatosis 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 FGFR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Encephalocraniocutaneous Lipomatosis  (DOID:9007632)
  • 99 papers in CRRD have been used to annotate Fgfr1
  • Curation Notes: ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis
  • Original References(s): PMID:10766980, PMID:23819449, PMID:26619011, PMID:26822237, PMID:26942290, PMID:27626068


  • An association has been curated linking Fgfr1 and Encephalocraniocutaneous Lipomatosis 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 FGFR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Encephalocraniocutaneous Lipomatosis  (DOID:9007632)
  • 99 papers in CRRD have been used to annotate Fgfr1


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