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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Col2a1 and spondyloepimetaphyseal dysplasia, Strudwick type 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]
  • 3 RGD objects have been annotated to spondyloepimetaphyseal dysplasia, Strudwick type  (DOID:0080028)
  • 72 papers in RGD have been used to annotate Col2a1


    • An association has been curated linking Col2a1 and spondyloepimetaphyseal dysplasia, Strudwick type 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]
  • 3 RGD objects have been annotated to spondyloepimetaphyseal dysplasia, Strudwick type  (DOID:0080028)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: ClinVar Annotator: match by term: SMED Strudwick type | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia
  • Original References(s): PMID:15895462 PMID:16088915 PMID:17078022 PMID:17347327 PMID:17509551 PMID:18272325 PMID:18276201 PMID:1905723 PMID:19344236 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26467025 PMID:26626311 PMID:28492532 PMID:30138938 PMID:30792901 PMID:33249554 PMID:34008892 PMID:34394176 PMID:7550321 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8423604 PMID:8486375 PMID:8702139 PMID:8723096 PMID:8893763 PMID:9016532


    • An association has been curated linking Col2a1 and spondyloepimetaphyseal dysplasia, Strudwick type in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL2A1 (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to spondyloepimetaphyseal dysplasia, Strudwick type  (DOID:0080028)
  • 72 papers in RGD have been used to annotate Col2a1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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