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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Col5a2 and Ehlers-Danlos Syndrome Type 4 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Ehlers-Danlos Syndrome Type 4  (DOID:9001287)
  • 13 papers in RGD have been used to annotate Col5a2
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4
  • Original References(s): PMID:20648054 PMID:28492532


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