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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Col3a1 and Ehlers-Danlos syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Oderich GS, etal., J Vasc Surg. 2005 Jul;42(1):98-106.
  • The annotation has been inferred from sequence orthology with COL3A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Oderich GS, etal., J Vasc Surg. 2005 Jul;42(1):98-106.
  • 258 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 44 papers in RGD have been used to annotate Col3a1
  • Curation Notes: DNA:mutation


    • An association has been curated linking Col3a1 and Ehlers-Danlos syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Smith LB, etal., Cardiovasc Res. 2011 Apr 1;90(1):182-90. doi: 10.1093/cvr/cvq356. Epub 2010 Nov 10.
  • The annotation has been inferred from sequence orthology with Col3a1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Smith LB, etal., Cardiovasc Res. 2011 Apr 1;90(1):182-90. doi: 10.1093/cvr/cvq356. Epub 2010 Nov 10.
  • 258 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 44 papers in RGD have been used to annotate Col3a1
  • Curation Notes: DNA:deletion:promoter, exons, introns


    • An association has been curated linking Col3a1 and Ehlers-Danlos syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Pepin M, etal., N Engl J Med 2000 Mar 9;342(10):673-80.
  • The annotation has been inferred from sequence orthology with COL3A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Pepin M, etal., N Engl J Med 2000 Mar 9;342(10):673-80.
  • 258 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 44 papers in RGD have been used to annotate Col3a1
  • Curation Notes: DNA:mutations:multiple (human)


    • An association has been curated linking Col3a1 and Ehlers-Danlos syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COL3A1 (Homo sapiens) [(EXP) inferred from experiment]
  • 258 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 44 papers in RGD have been used to annotate Col3a1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Col3a1 and Ehlers-Danlos syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Richards AJ, etal., Hum Genet. 1992 Jan;88(3):325-30.
  • The annotation has been inferred from sequence orthology with COL3A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Richards AJ, etal., Hum Genet. 1992 Jan;88(3):325-30.
  • 258 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 44 papers in RGD have been used to annotate Col3a1
  • Curation Notes: DNA:deletion:exon


    • An association has been curated linking Col3a1 and Ehlers-Danlos syndrome in Rattus norvegicus.        

  • 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]
  • 258 RGD objects have been annotated to Ehlers-Danlos syndrome  (DOID:13359)
  • 44 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:20301667 PMID:2049575 PMID:21086191 PMID:21984974 PMID:22001912 PMID:22019127 PMID:2235526 PMID:24033266 PMID:24036952 PMID:24055113 PMID:24922459 PMID:25503501 PMID:25637381 PMID:25741868 PMID:25758994 PMID:25776230 PMID:25834947 PMID:25846194 PMID:25944730 PMID:25985138 PMID:26017485 PMID:26188975 PMID:26332594 PMID:26467025 PMID:27011056 PMID:27888582 PMID:27964749 PMID:28492532 PMID:28748566 PMID:29192238 PMID:29346445 PMID:30115950 PMID:30374176 PMID:30474650 PMID:30837697 PMID:31141158 PMID:31903434 PMID:33087929 PMID:36977837 PMID:37079061 PMID:8514866 PMID:9036918 PMID:9399899


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