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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking POLG and Abnormality of the mitochondrion in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8563737 (Homo sapiens)
  • 251 RGD objects have been annotated to Abnormality of the mitochondrion  (HP:0012103)
  • 36 papers in RGD have been used to annotate POLG
  • Curation Notes: ClinVar Annotator: match by term: Abnormality of the mitochondrion
  • Original References(s): PMID:11431686 PMID:16368709 PMID:16639411 PMID:18195149 PMID:20601675 PMID:21880868 PMID:22006280 PMID:24288107 PMID:25741868 PMID:26095671 PMID:28492532 PMID:32567010


  • An association has been curated linking POLG and Abnormality of the mitochondrion in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 251 RGD objects have been annotated to Abnormality of the mitochondrion  (HP:0012103)
  • 36 papers in RGD have been used to annotate POLG
  • Original References(s): ORPHA:298


  • An association has been curated linking POLG and Abnormality of the mitochondrion in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 251 RGD objects have been annotated to Abnormality of the mitochondrion  (HP:0012103)
  • 36 papers in RGD have been used to annotate POLG
  • Original References(s): ORPHA:254892


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