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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Hspg2 and osteochondrodysplasia in Chinchilla lanigera.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with HSPG2 (Homo sapiens)
  • 827 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 3 papers in RGD have been used to annotate Hspg2
  • Qualifier: susceptibility
  • Curation Notes: Schwartz-Jampel syndrome, OMIM:255800;DNA:missense mutations, splice-site mutations
  • Original References(s): PMID:11101850 REF_RGD_ID:1624267


    • An association has been curated linking Hspg2 and osteochondrodysplasia in Chinchilla lanigera.        

  • 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 HSPG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 827 RGD objects have been annotated to osteochondrodysplasia  (DOID:2256)
  • 3 papers in RGD have been used to annotate Hspg2
  • Curation Notes: ClinVar Annotator: match by term: Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities
  • Original References(s): PMID:25741868 PMID:28492532


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