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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking MTHFD1 and Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia in Pan paniscus.        

  • 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 MTHFD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia  (DOID:9009055)
  • 0 papers in RGD have been used to annotate MTHFD1
  • Curation Notes: ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
  • Original References(s): PMID:11004530 PMID:15633187 PMID:16199547 PMID:16315005 PMID:16552426 PMID:17894836 PMID:18277167 PMID:21813566 PMID:23296427 PMID:23402911 PMID:24033266 PMID:25548164 PMID:25633902 PMID:25741868 PMID:27707659 PMID:28492532 PMID:31203817 PMID:31589614 PMID:32414565


    • An association has been curated linking MTHFD1 and Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia in Pan paniscus.        

  • 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 MTHFD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia  (DOID:9009055)
  • 0 papers in RGD have been used to annotate MTHFD1


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