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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Mbl2 and cystic fibrosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Muhlebach MS, etal., Clin Exp Immunol. 2006 Aug;145(2):302-7.
  • The annotation has been inferred from sequence orthology with MBL2 (Homo sapiens) [(IEP) inferred from expression pattern]
  • 2 additional annotations were made from Muhlebach MS, etal., Clin Exp Immunol. 2006 Aug;145(2):302-7.
  • 114 RGD objects have been annotated to cystic fibrosis  (DOID:1485)
  • 137 papers in RGD have been used to annotate Mbl2
  • Qualifier: severity
  • Curation Notes: protein:decreased secretion:serum (human)


    • An association has been curated linking Mbl2 and cystic fibrosis in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Garred P, etal., J Clin Invest. 1999 Aug;104(4):431-7.
  • The annotation has been inferred from sequence orthology with MBL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Garred P, etal., J Clin Invest. 1999 Aug;104(4):431-7.
  • 114 RGD objects have been annotated to cystic fibrosis  (DOID:1485)
  • 137 papers in RGD have been used to annotate Mbl2
  • Qualifier: severity
  • Curation Notes: DNA:polymorphisms:5' utr, exon:multiple (human)


    • An association has been curated linking Mbl2 and cystic fibrosis 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 MBL2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 114 RGD objects have been annotated to cystic fibrosis  (DOID:1485)
  • 137 papers in RGD have been used to annotate Mbl2
  • Curation Notes: ClinVar Annotator: match by term: Cystic fibrosis
  • Original References(s): PMID:10071515 PMID:10449435 PMID:15674393 PMID:16912583 PMID:18292811 PMID:20068595 PMID:22323042 PMID:22377282 PMID:22940091 PMID:24753481 PMID:25178872 PMID:25741868 PMID:28492532 PMID:7707811 PMID:8206524


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