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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Col2a1 and Kniest dysplasia in Mus musculus.        

  • 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 Kniest dysplasia  (DOID:0080045)
  • 50 papers in RGD have been used to annotate Col2a1


    • An association has been curated linking Col2a1 and Kniest dysplasia in Mus musculus.        

  • 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]
  • 1 RGD objects have been annotated to Kniest dysplasia  (DOID:0080045)
  • 50 papers in RGD have been used to annotate Col2a1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11297324


    • An association has been curated linking Col2a1 and Kniest dysplasia in Mus musculus.        

  • 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 Kniest dysplasia  (DOID:0080045)
  • 50 papers in RGD have been used to annotate Col2a1
  • Curation Notes: ClinVar Annotator: match by term: Kniest dysplasia
  • Original References(s): PMID:10406661 PMID:12995812 PMID:17078022 PMID:17347327 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:22791362 PMID:23188137 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26467025 PMID:28492532 PMID:29620724 PMID:29758562 PMID:30408610 PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 PMID:7874117 PMID:7977371 PMID:7981752 PMID:8218237 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9066888 PMID:9468540 PMID:9536098


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