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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Col5a1 and Ehlers-Danlos syndrome 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 COL5A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 237 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 2 papers in RGD have been used to annotate Col5a1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:10471441 PMID:10602121 PMID:10777716 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15580559 PMID:16199547 PMID:16431952 PMID:19370768 PMID:20635400 PMID:20979576 PMID:22696272 PMID:23587214 PMID:24033266 PMID:25741868 PMID:26608033 PMID:26854089 PMID:27011056 PMID:28074886 PMID:28485813 PMID:28492532 PMID:28550590 PMID:29924831 PMID:30675029 PMID:30858776 PMID:31064749 PMID:31829210 PMID:32508047 PMID:32938213 PMID:33206719 PMID:33737726 PMID:33914963 PMID:34265140 PMID:35396906 PMID:35723357


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