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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Pfkm and glycogen storage disease VII in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Amit R, etal., Muscle Nerve. 1992 Apr;15(4):455-8.
  • The annotation has been inferred from sequence orthology with PFKM (Homo sapiens) [(IDA) inferred from direct assay]
  • 2 additional annotations were made from Amit R, etal., Muscle Nerve. 1992 Apr;15(4):455-8.
  • 2 RGD objects have been annotated to glycogen storage disease VII  (DOID:11721)
  • 22 papers in RGD have been used to annotate Pfkm


    • An association has been curated linking Pfkm and glycogen storage disease VII 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 PFKM (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to glycogen storage disease VII  (DOID:11721)
  • 22 papers in RGD have been used to annotate Pfkm


    • An association has been curated linking Pfkm and glycogen storage disease VII 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 PFKM (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to glycogen storage disease VII  (DOID:11721)
  • 22 papers in RGD have been used to annotate Pfkm
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:2140573 PMID:8444874


    • An association has been curated linking Pfkm and glycogen storage disease VII 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 PFKM (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to glycogen storage disease VII  (DOID:11721)
  • 22 papers in RGD have been used to annotate Pfkm
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease, type VII | ClinVar Annotator: match by term: Tarui disease
  • Original References(s): PMID:14339001 PMID:16199547 PMID:17576681 PMID:1833270 PMID:2140573 PMID:22133655 PMID:22364848 PMID:22995305 PMID:24011984 PMID:24033266 PMID:25741868 PMID:27066546 PMID:28492532 PMID:28779239 PMID:7479776 PMID:7513946 PMID:7603526 PMID:7825568 PMID:8037209 PMID:8444874 PMID:8659544 PMID:8880699 PMID:8889589 PMID:9389749 PMID:9443500 PMID:9536098


    • An association has been curated linking Pfkm and glycogen storage disease VII in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Pfkm (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to glycogen storage disease VII  (DOID:11721)
  • 22 papers in RGD have been used to annotate Pfkm
  • Curation Notes: OMIM:232800


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