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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Col3a1 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 COL3A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 237 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 4 papers in RGD have been used to annotate Col3a1
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:18272325 PMID:19424605 PMID:2049575 PMID:21086191 PMID:21984974 PMID:22001912 PMID:22019127 PMID:2235526 PMID:24033266 PMID:24036952 PMID:24055113 PMID:25503501 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25944730 PMID:26017485 PMID:26188975 PMID:26332594 PMID:27011056 PMID:27888582 PMID:27964749 PMID:28492532 PMID:28748566 PMID:29192238 PMID:30115950 PMID:30374176 PMID:30837697 PMID:31141158 PMID:8514866 PMID:9036918 PMID:9399899


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