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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Gata6 and congenital diaphragmatic hernia in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Takayasu H, etal., J Pediatr Surg. 2008 Feb;43(2):362-6. doi: 10.1016/j.jpedsurg.2007.10.047.
  • The annotation has been inferred from sequence orthology with Gata6 (Rattus norvegicus) [(IEP) inferred from expression pattern]
  • 5 additional annotations were made from Takayasu H, etal., J Pediatr Surg. 2008 Feb;43(2):362-6. doi: 10.1016/j.jpedsurg.2007.10.047.
  • 67 RGD objects have been annotated to congenital diaphragmatic hernia  (DOID:3827)
  • 18 papers in RGD have been used to annotate Gata6
  • Curation Notes: mRNA:decreased expression:heart (rat)


    • An association has been curated linking Gata6 and congenital diaphragmatic hernia 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 GATA6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 67 RGD objects have been annotated to congenital diaphragmatic hernia  (DOID:3827)
  • 18 papers in RGD have been used to annotate Gata6
  • Curation Notes: ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: DIH
  • Original References(s): PMID:22158542 PMID:24385578 PMID:25741868


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