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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking MTR and homocystinuria-megaloblastic anemia cblG type in Chlorocebus sabaeus.        

  • 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 MTR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to homocystinuria-megaloblastic anemia cblG type  (DOID:0112256)
  • 0 papers in RGD have been used to annotate MTR
  • Curation Notes: ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
  • Original References(s): PMID:10323741 PMID:12068375 PMID:12154064 PMID:12375236 PMID:12923861 PMID:16199547 PMID:17576681 PMID:20890936 PMID:21615938 PMID:22887477 PMID:25227144 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25856670 PMID:26198278 PMID:28492532 PMID:28666289 PMID:32533987 PMID:32581362 PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 PMID:9683607


  • An association has been curated linking MTR and homocystinuria-megaloblastic anemia cblG type in Chlorocebus sabaeus.        

  • 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 MTR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to homocystinuria-megaloblastic anemia cblG type  (DOID:0112256)
  • 0 papers in RGD have been used to annotate MTR
  • Curation Notes: ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
  • Original References(s): PMID:10323741 PMID:12068375 PMID:12154064 PMID:12375236 PMID:12923861 PMID:16199547 PMID:17576681 PMID:20890936 PMID:21615938 PMID:22786600 PMID:22887477 PMID:25227144 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25758715 PMID:25856670 PMID:26198278 PMID:28492532 PMID:28666289 PMID:32533987 PMID:32581362 PMID:34269512 PMID:34625984 PMID:37404677 PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 PMID:9683607


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