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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Col2a1 and multiple epiphyseal dysplasia with myopia and deafness in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with COL2A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to multiple epiphyseal dysplasia with myopia and deafness  (DOID:0111348)
  • 72 papers in RGD have been used to annotate Col2a1


  • An association has been curated linking Col2a1 and multiple epiphyseal dysplasia with myopia and deafness 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]
  • 1 RGD objects have been annotated to multiple epiphyseal dysplasia with myopia and deafness  (DOID:0111348)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness


  • An association has been curated linking Col2a1 and multiple epiphyseal dysplasia with myopia and deafness 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]
  • 1 RGD objects have been annotated to multiple epiphyseal dysplasia with myopia and deafness  (DOID:0111348)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness
  • Original References(s): PMID:22496037 PMID:25741868 PMID:27390512 PMID:28018693 PMID:28492532 PMID:28983407 PMID:9800905


  • An association has been curated linking Col2a1 and multiple epiphyseal dysplasia with myopia and deafness 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]
  • 1 RGD objects have been annotated to multiple epiphyseal dysplasia with myopia and deafness  (DOID:0111348)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness
  • Original References(s): PMID:25741868 PMID:28492532


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