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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking MTHFR and Abnormality of metabolism/homeostasis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8596138 (Homo sapiens)
  • 3663 RGD objects have been annotated to Abnormality of metabolism/homeostasis  (HP:0001939)
  • 167 papers in RGD have been used to annotate MTHFR
  • Curation Notes: ClinVar Annotator: match by term: Abnormality of metabolism/homeostasis
  • Original References(s): PMID:25024447 PMID:25736335 PMID:25741868 PMID:28492532 PMID:7920641


    • An association has been curated linking MTHFR and Abnormality of metabolism/homeostasis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 3663 RGD objects have been annotated to Abnormality of metabolism/homeostasis  (HP:0001939)
  • 167 papers in RGD have been used to annotate MTHFR
  • Original References(s): OMIM:601634


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