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GENE - TERM ANNOTATION REPORT

20 Annotations Found.

An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease, type VI
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease, type VI
  • Original References(s): PMID:17705025, PMID:25741868


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by OMIM:232700


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by OMIM:232700
  • Original References(s): PMID:24033266


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by OMIM:232700
  • Original References(s): PMID:9529348


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by OMIM:232700
  • Original References(s): PMID:9536091


  • An association has been curated linking Pygl and glycogen storage disease VI in Rattus norvegicus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Beauchamp NJ, etal., J Inherit Metab Dis. 2007 Oct;30(5):722-34. Epub 2007 Aug 21.
  • 11 additional annotations were made from Beauchamp NJ, etal., J Inherit Metab Dis. 2007 Oct;30(5):722-34. Epub 2007 Aug 21.
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: DNA:mutation:multiple


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(EXP) inferred from experiment]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:9529348, PMID:9536091


  • An association has been curated linking Pygl and glycogen storage disease VI in Rattus norvegicus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Davit-Spraul A, etal., Mol Genet Metab. 2011 Sep-Oct;104(1-2):137-43. doi: 10.1016/j.ymgme.2011.05.010. Epub 2011 May 17.
  • 8 additional annotations were made from Davit-Spraul A, etal., Mol Genet Metab. 2011 Sep-Oct;104(1-2):137-43. doi: 10.1016/j.ymgme.2011.05.010. Epub 2011 May 17.
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: DNA:SNPs,insertions,deletions:exons,introns:multiple


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease, type VI
  • Original References(s): PMID:28492532


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease, type VI
  • Original References(s): PMID:25741868


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease, type VI
  • Original References(s): PMID:24033266, PMID:25741868


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease, type VI
  • Original References(s): PMID:21646031, PMID:25741868, PMID:28492532, PMID:9529348, PMID:9536091


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease, type VI
  • Original References(s): PMID:17705025, PMID:28492532


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease, type VI
  • Original References(s): PMID:17705025


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease, type VI
  • Original References(s): PMID:22899091, PMID:28492532


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease, type VI
  • Original References(s): PMID:25266922, PMID:28492532


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease, type VI
  • Original References(s): PMID:21646031, PMID:28492532, PMID:9536091


  • An association has been curated linking Pygl and glycogen storage disease VI 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 PYGL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to glycogen storage disease VI  (DOID:2754)
  • 35 papers in CRRD have been used to annotate Pygl
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease, type VI
  • Original References(s): PMID:12809646, PMID:28492532


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.