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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Sftpc and genetic disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Guttentag SH, etal., Am J Respir Cell Mol Biol. 2005 Jul;33(1):14-21. Epub 2005 Mar 24.
  • The annotation has been inferred from sequence orthology with Sftpc (Mus musculus) [(IEP) inferred from expression pattern]
  • 5 additional annotations were made from Guttentag SH, etal., Am J Respir Cell Mol Biol. 2005 Jul;33(1):14-21. Epub 2005 Mar 24.
  • 18253 RGD objects have been annotated to genetic disease  (DOID:630)
  • 61 papers in RGD have been used to annotate Sftpc
  • Curation Notes: Hermansky-Pudlak syndrome;protein:decreased expression:lung


    • An association has been curated linking Sftpc and genetic disease 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 SFTPC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 18253 RGD objects have been annotated to genetic disease  (DOID:630)
  • 61 papers in RGD have been used to annotate Sftpc
  • Curation Notes: ClinVar Annotator: match by term: Inborn genetic diseases
  • Original References(s): PMID:22308375


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