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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking RRM2B and External ophthalmoplegia 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:8568345 (Homo sapiens)
  • 78 RGD objects have been annotated to External ophthalmoplegia  (HP:0000544)
  • 7 papers in RGD have been used to annotate RRM2B
  • Curation Notes: ClinVar Annotator: match by term: Ophthalmoplegia, Chronic Progressive External
  • Original References(s): PMID:21646632 PMID:24741716


    • An association has been curated linking RRM2B and External ophthalmoplegia 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:8568347 (Homo sapiens)
  • 78 RGD objects have been annotated to External ophthalmoplegia  (HP:0000544)
  • 7 papers in RGD have been used to annotate RRM2B
  • Curation Notes: ClinVar Annotator: match by term: Ophthalmoplegia, Chronic Progressive External
  • Original References(s): PMID:21951382 PMID:24741716 PMID:25741868 PMID:28492532


    • An association has been curated linking RRM2B and External ophthalmoplegia 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:8568346 (Homo sapiens)
  • 78 RGD objects have been annotated to External ophthalmoplegia  (HP:0000544)
  • 7 papers in RGD have been used to annotate RRM2B
  • Curation Notes: ClinVar Annotator: match by term: Ophthalmoplegia, Chronic Progressive External
  • Original References(s): PMID:21646632 PMID:23107649 PMID:24741716 PMID:28492532 PMID:32161153


    • An association has been curated linking RRM2B and External ophthalmoplegia 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
  • 78 RGD objects have been annotated to External ophthalmoplegia  (HP:0000544)
  • 7 papers in RGD have been used to annotate RRM2B
  • Original References(s): ORPHA:298


    • An association has been curated linking RRM2B and External ophthalmoplegia 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
  • 78 RGD objects have been annotated to External ophthalmoplegia  (HP:0000544)
  • 7 papers in RGD have been used to annotate RRM2B
  • Original References(s): ORPHA:254892


    • An association has been curated linking RRM2B and External ophthalmoplegia 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
  • 78 RGD objects have been annotated to External ophthalmoplegia  (HP:0000544)
  • 7 papers in RGD have been used to annotate RRM2B
  • Original References(s): OMIM:612075


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