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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking COL1A1 and Ehlers-Danlos syndrome arthrochalasia type 2 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 COL1A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Ehlers-Danlos syndrome arthrochalasia type 2  (DOID:0080728)
  • 0 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, TYPE VIIB, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2
  • Original References(s): PMID:18311573 PMID:21667357 PMID:22206639 PMID:25741868 PMID:25944380 PMID:26627451 PMID:28492532 PMID:32581362 PMID:7942841 PMID:9295084 PMID:9443882


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