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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Frem1 and congenital diaphragmatic hernia 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 FREM1 (Homo sapiens) [(EXP) inferred from experiment]
  • 57 RGD objects have been annotated to congenital diaphragmatic hernia  (DOID:3827)
  • 10 papers in RGD have been used to annotate Frem1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:23221805 PMID:26382659


  • An association has been curated linking Frem1 and congenital diaphragmatic hernia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Beck TF, etal., Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507. Epub 2012 Dec 5.
  • The annotation has been inferred from sequence orthology with FREM1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Beck TF, etal., Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507. Epub 2012 Dec 5.
  • 57 RGD objects have been annotated to congenital diaphragmatic hernia  (DOID:3827)
  • 10 papers in RGD have been used to annotate Frem1
  • Curation Notes: DNA:deletion, frame shift:cds, splice junction:


  • An association has been curated linking Frem1 and congenital diaphragmatic hernia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Beck TF, etal., Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507. Epub 2012 Dec 5.
  • The annotation has been inferred from sequence orthology with Frem1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Beck TF, etal., Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507. Epub 2012 Dec 5.
  • 57 RGD objects have been annotated to congenital diaphragmatic hernia  (DOID:3827)
  • 10 papers in RGD have been used to annotate Frem1
  • Curation Notes: DNA:deletion, frame shift:cds, splice junction:


  • An association has been curated linking Frem1 and congenital diaphragmatic hernia in Rattus norvegicus.        

  • The association was inferred from expression pattern (IEP)
  •  
  • The annotation was made from Takahashi T, etal., Eur J Pediatr Surg. 2016 Feb;26(1):81-5. doi: 10.1055/s-0035-1559884. Epub 2015 Sep 18.
  • 2 additional annotations were made from Takahashi T, etal., Eur J Pediatr Surg. 2016 Feb;26(1):81-5. doi: 10.1055/s-0035-1559884. Epub 2015 Sep 18.
  • 57 RGD objects have been annotated to congenital diaphragmatic hernia  (DOID:3827)
  • 10 papers in RGD have been used to annotate Frem1
  • Curation Notes: mRNA,protein:decreased expression:diaphragm:


  • An association has been curated linking Frem1 and congenital diaphragmatic hernia 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 FREM1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 57 RGD objects have been annotated to congenital diaphragmatic hernia  (DOID:3827)
  • 10 papers in RGD have been used to annotate Frem1
  • Curation Notes: ClinVar Annotator: match by term: Congenital diaphragmatic hernia
  • Original References(s): PMID:23806086 PMID:24088041 PMID:25736269 PMID:25741868


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