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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Phka1 and glycogen storage disease IXD 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 PHKA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to glycogen storage disease IXD  (DOID:0111040)
  • 16 papers in RGD have been used to annotate Phka1


    • An association has been curated linking Phka1 and glycogen storage disease IXD 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 Phka1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to glycogen storage disease IXD  (DOID:0111040)
  • 16 papers in RGD have been used to annotate Phka1
  • Curation Notes: OMIM:300559


    • An association has been curated linking Phka1 and glycogen storage disease IXD 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 PHKA1 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to glycogen storage disease IXD  (DOID:0111040)
  • 16 papers in RGD have been used to annotate Phka1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Phka1 and glycogen storage disease IXD 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 PHKA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to glycogen storage disease IXD  (DOID:0111040)
  • 16 papers in RGD have been used to annotate Phka1
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition
  • Original References(s): PMID:12825073 PMID:15637709 PMID:16199547 PMID:17576681 PMID:18401027 PMID:22238410 PMID:2252364 PMID:25640679 PMID:25741868 PMID:26242992 PMID:28492532 PMID:28600779 PMID:29667327 PMID:32528171 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190


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