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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Col1a1 and Wiedemann-Rautenstrauch syndrome 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 COL1A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Wiedemann-Rautenstrauch syndrome  (DOID:0081333)
  • 100 papers in RGD have been used to annotate Col1a1
  • Curation Notes: ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome
  • Original References(s): PMID:16786509 PMID:28492532 PMID:29101475 PMID:30450527


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