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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Mtrr and homocystinuria-megaloblastic anemia cblE type 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 MTRR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to homocystinuria-megaloblastic anemia cblE type  (DOID:0112255)
  • 29 papers in RGD have been used to annotate Mtrr
  • Curation Notes: ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE
  • Original References(s): PMID:10444342 PMID:10484769 PMID:10500018 PMID:10930360 PMID:12375236 PMID:12555939 PMID:12923861 PMID:12971424 PMID:15292234 PMID:15494741 PMID:15714522 PMID:15979034 PMID:16199547 PMID:17576681 PMID:20120036 PMID:22887477 PMID:24033266 PMID:25227144 PMID:25526710 PMID:25741868 PMID:25978498 PMID:28492532 PMID:2860337 PMID:30041674 PMID:31063268 PMID:33980297 PMID:6700644 PMID:9501215 PMID:9536098


    • An association has been curated linking Mtrr and homocystinuria-megaloblastic anemia cblE type in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with MTRR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to homocystinuria-megaloblastic anemia cblE type  (DOID:0112255)
  • 29 papers in RGD have been used to annotate Mtrr
  • Qualifier: susceptibility


    • An association has been curated linking Mtrr and homocystinuria-megaloblastic anemia cblE type in Mus musculus.        

  • 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 MTRR (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to homocystinuria-megaloblastic anemia cblE type  (DOID:0112255)
  • 29 papers in RGD have been used to annotate Mtrr
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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