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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Adk and hypermethioninemia due to adenosine kinase deficiency 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 ADK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to hypermethioninemia due to adenosine kinase deficiency  (DOID:0111038)
  • 30 papers in RGD have been used to annotate Adk


    • An association has been curated linking Adk and hypermethioninemia due to adenosine kinase deficiency 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 ADK (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to hypermethioninemia due to adenosine kinase deficiency  (DOID:0111038)
  • 30 papers in RGD have been used to annotate Adk
  • Curation Notes: ClinVar Annotator: match by term: ADK-related condition | ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 8
  • Original References(s): PMID:21963049 PMID:25741868 PMID:26642971 PMID:26975589 PMID:28492532


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