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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking PLOD2 and Talipes equinovarus 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:12739006 (Homo sapiens)
  • 414 RGD objects have been annotated to Talipes equinovarus  (HP:0001762)
  • 7 papers in RGD have been used to annotate PLOD2
  • Curation Notes: ClinVar Annotator: match by term: CLUB FOOT
  • Original References(s): PMID:25741868 PMID:28492532 PMID:32612477


    • An association has been curated linking PLOD2 and Talipes equinovarus 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
  • 414 RGD objects have been annotated to Talipes equinovarus  (HP:0001762)
  • 7 papers in RGD have been used to annotate PLOD2
  • Original References(s): MIM:609220 ORPHA:2771


    • An association has been curated linking PLOD2 and Talipes equinovarus 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:12739027 (Homo sapiens)
  • 414 RGD objects have been annotated to Talipes equinovarus  (HP:0001762)
  • 7 papers in RGD have been used to annotate PLOD2
  • Curation Notes: ClinVar Annotator: match by term: Clubfoot
  • Original References(s): PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 PMID:29178448


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