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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking COL1A1 and thoracic aortic aneurysm in Homo sapiens.        

  • The association was inferred from expression pattern (IEP)
    		•  
  • The annotation was made from Zou M, etal., Oncotarget. 2017 Jul 5;8(47):81825-81837. doi: 10.18632/oncotarget.18998. eCollection 2017 Oct 10.
  • 8 additional annotations were made from Zou M, etal., Oncotarget. 2017 Jul 5;8(47):81825-81837. doi: 10.18632/oncotarget.18998. eCollection 2017 Oct 10.
  • 187 RGD objects have been annotated to thoracic aortic aneurysm  (DOID:14004)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: protein:increased expression:aorta (human)


    • An association has been curated linking COL1A1 and thoracic aortic aneurysm in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8602806 (Homo sapiens)
  • 187 RGD objects have been annotated to thoracic aortic aneurysm  (DOID:14004)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
  • Original References(s): PMID:16786509 PMID:25741868 PMID:28492532 PMID:29543232 PMID:31584903


    • An association has been curated linking COL1A1 and thoracic aortic aneurysm in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8602785 (Homo sapiens)
  • 187 RGD objects have been annotated to thoracic aortic aneurysm  (DOID:14004)
  • 102 papers in RGD have been used to annotate COL1A1
  • Curation Notes: ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
  • Original References(s): PMID:25741868 PMID:28492532 PMID:29543232 PMID:30665703


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