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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Mthfr and Down syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Rai AK, etal., J Hum Genet. 2006;51(4):278-83. Epub 2006 Feb 18.
  • The annotation has been inferred from sequence orthology with MTHFR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Rai AK, etal., J Hum Genet. 2006;51(4):278-83. Epub 2006 Feb 18.
  • 62 RGD objects have been annotated to Down syndrome  (DOID:14250)
  • 173 papers in RGD have been used to annotate Mthfr
  • Qualifier: susceptibility
  • Curation Notes: DNA:SNPs:cds:c.677C>T,c.1298A>C (human)


    • An association has been curated linking Mthfr and Down syndrome 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 MTHFR (Homo sapiens) [(EXP) inferred from experiment]
  • 62 RGD objects have been annotated to Down syndrome  (DOID:14250)
  • 173 papers in RGD have been used to annotate Mthfr
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:16353284 PMID:16489479 PMID:16845273 PMID:17431899


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