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GENE - TERM ANNOTATION REPORT

32 Annotations Found.

An association has been curated linking Pklr and pyruvate kinase deficiency of red cells in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Pissard S, etal., Br J Haematol. 2006 Jun;133(6):683-9.
  • The annotation has been inferred from sequence orthology with PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Pissard S, etal., Br J Haematol. 2006 Jun;133(6):683-9.
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: associated with Anemia, Hemolytic;DNA:mutations:multiple (human)


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by OMIM:266200
  • Original References(s): PMID:12393511


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by OMIM:266200
  • Original References(s): PMID:1896471


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:16704447 PMID:25741868


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by OMIM:266200
  • Original References(s): PMID:9886305


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by OMIM:266200
  • Original References(s): PMID:1536957


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by OMIM:266200
  • Original References(s): PMID:15491302


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by OMIM:266200
  • Original References(s): PMID:18420493


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by OMIM:266200
  • Original References(s): PMID:2018831


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by OMIM:266200
  • Original References(s): PMID:11960989 PMID:14014643 PMID:14255553 PMID:18759866 PMID:8161798


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by OMIM:266200
  • Original References(s): PMID:1937486


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Kanno H, etal., Blood. 1995 Oct 15;86(8):3205-10.
  • The annotation has been inferred from sequence orthology with Pklr (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Kanno H, etal., Blood. 1995 Oct 15;86(8):3205-10.
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: DNA:missense mutation:cds:p.G338D (mouse)


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Meza NW, etal., Mol Ther. 2009 Dec;17(12):2000-9. doi: 10.1038/mt.2009.200. Epub 2009 Sep 15.
  • The annotation has been inferred from sequence orthology with Pklr (Mus musculus) [(IMP) inferred from mutant phenotype] & PKLR (Homo sapiens) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Meza NW, etal., Mol Ther. 2009 Dec;17(12):2000-9. doi: 10.1038/mt.2009.200. Epub 2009 Sep 15.
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: human gene complementing mouse knockout


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:16704447 PMID:17574881 PMID:25741868 PMID:7706479 PMID:7948315 PMID:9827908


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by OMIM:266200


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:11698298 PMID:12393511 PMID:21815188 PMID:25741868 PMID:26658699 PMID:7706479 PMID:8483951 PMID:9057665 PMID:9389718


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:25741868


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by OMIM:266200
  • Original References(s): PMID:7655861 PMID:7919353 PMID:8483951


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:10828047 PMID:7702630


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:11054094 PMID:11328279 PMID:11960989 PMID:18759866 PMID:24033266 PMID:25741868 PMID:26728349 PMID:27346685 PMID:27871768 PMID:28133914 PMID:28492532 PMID:8483951 PMID:9827908


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:28492532


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:9057665


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:21833022 PMID:26832193


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:15953013


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:9657767


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:26658699


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:21833022 PMID:23082140 PMID:28492532


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:15953013 PMID:16704447 PMID:18172691 PMID:19085939


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:19758413 PMID:26832193


  • An association has been curated linking Pklr and pyruvate kinase deficiency of red cells 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 PKLR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to pyruvate kinase deficiency of red cells  (DOID:0111077)
  • 51 papers in RGD have been used to annotate Pklr
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells
  • Original References(s): PMID:1670447 PMID:25741868


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