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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Col2a1 and spondyloepiphyseal dysplasia with congenital joint dislocations 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 COL2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to spondyloepiphyseal dysplasia with congenital joint dislocations  (DOID:0050813)
  • 72 papers in CRRD have been used to annotate Col2a1
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Col2a1 and spondyloepiphyseal dysplasia with congenital joint dislocations 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 COL2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to spondyloepiphyseal dysplasia with congenital joint dislocations  (DOID:0050813)
  • 72 papers in CRRD have been used to annotate Col2a1
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia
  • Original References(s): PMID:25741868, PMID:7752132, PMID:8325895, PMID:9101290


  • An association has been curated linking Col2a1 and spondyloepiphyseal dysplasia with congenital joint dislocations 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 COL2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to spondyloepiphyseal dysplasia with congenital joint dislocations  (DOID:0050813)
  • 72 papers in CRRD have been used to annotate Col2a1
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia
  • Original References(s): PMID:11746045, PMID:24033266, PMID:25741868


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