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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking COL1A2 and Ehlers-Danlos syndrome in Canis lupus familiaris.        

  • 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 COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 252 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 0 papers in RGD have been used to annotate COL1A2
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome
  • Original References(s): PMID:11288717 PMID:15077201 PMID:1577745 PMID:16199547 PMID:1634225 PMID:16786509 PMID:16816023 PMID:17078022 PMID:1712342 PMID:17576681 PMID:18996919 PMID:19344236 PMID:1990839 PMID:21520333 PMID:21667357 PMID:22206639 PMID:24033266 PMID:24501682 PMID:25741868 PMID:25944380 PMID:26138843 PMID:26402641 PMID:26467025 PMID:27056980 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28346524 PMID:28492532 PMID:28498836 PMID:28810924 PMID:2993307 PMID:3049731 PMID:31039433 PMID:31794058 PMID:3372533 PMID:3383844 PMID:3621666 PMID:36896471 PMID:3733683 PMID:4795106 PMID:6092353 PMID:7695699 PMID:7864655 PMID:8218237 PMID:8829649 PMID:9016532 PMID:9272740 PMID:9536098


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