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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Pgam2 and Dimauro Disease in Rattus norvegicus.        

  • 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 PGAM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Dimauro Disease  (DOID:9005787)
  • 17 papers in RGD have been used to annotate Pgam2


    • An association has been curated linking Pgam2 and Dimauro Disease in Rattus norvegicus.        

  • 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 PGAM2 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Dimauro Disease  (DOID:9005787)
  • 17 papers in RGD have been used to annotate Pgam2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Pgam2 and Dimauro Disease in Rattus norvegicus.        

  • 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 PGAM2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Dimauro Disease  (DOID:9005787)
  • 17 papers in RGD have been used to annotate Pgam2
  • Curation Notes: ClinVar Annotator: match by term: Dimauro disease | ClinVar Annotator: match by term: GSD X | ClinVar Annotator: match by term: Myopathy due to phosphoglycerate mutase deficiency
  • Original References(s): PMID:10545043 PMID:16881065 PMID:17576681 PMID:18852891 PMID:19273759 PMID:19322572 PMID:19783439 PMID:21444020 PMID:22995991 PMID:23169535 PMID:23335027 PMID:25741868 PMID:26502762 PMID:27612597 PMID:28492532 PMID:28944235 PMID:2987758 PMID:30310767 PMID:33782433 PMID:34237446 PMID:6308514 PMID:8447317 PMID:9536098


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