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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking COL2A1 and Short ribs 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
  • 69 RGD objects have been annotated to Short ribs  (HP:0000773)
  • 50 papers in RGD have been used to annotate COL2A1
  • Original References(s): OMIM:151210


    • An association has been curated linking COL2A1 and Short ribs 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
  • 69 RGD objects have been annotated to Short ribs  (HP:0000773)
  • 50 papers in RGD have been used to annotate COL2A1
  • Original References(s): ORPHA:93296


    • An association has been curated linking COL2A1 and Short ribs 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
  • 69 RGD objects have been annotated to Short ribs  (HP:0000773)
  • 50 papers in RGD have been used to annotate COL2A1
  • Original References(s): OMIM:200610


    • An association has been curated linking COL2A1 and Short ribs 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:12739020 (Homo sapiens)
  • 69 RGD objects have been annotated to Short ribs  (HP:0000773)
  • 50 papers in RGD have been used to annotate COL2A1
  • Curation Notes: ClinVar Annotator: match by term: Short ribs
  • Original References(s): PMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 PMID:29620724 PMID:7695699 PMID:8218237 PMID:9016532


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