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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking Col5a2 and thoracic aortic aneurysm 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 112 RGD objects have been annotated to thoracic aortic aneurysm  (DOID:14004)
  • 2 papers in RGD have been used to annotate Col5a2
  • Curation Notes: ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
  • Original References(s): PMID:11940702 PMID:16199547 PMID:17576681 PMID:20847697 PMID:23587214 PMID:25326637 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28213671 PMID:28485813 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:30675029 PMID:30919572 PMID:31538843 PMID:31829210 PMID:31847883 PMID:32736638 PMID:33161638 PMID:33974636 PMID:34265140 PMID:37079061 PMID:9536098


    • An association has been curated linking Col5a2 and thoracic aortic aneurysm 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 112 RGD objects have been annotated to thoracic aortic aneurysm  (DOID:14004)
  • 2 papers in RGD have been used to annotate Col5a2
  • Curation Notes: ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
  • Original References(s): PMID:11940702 PMID:17576681 PMID:20847697 PMID:23587214 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28213671 PMID:28485813 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:31829210 PMID:31847883 PMID:32736638 PMID:33161638 PMID:9536098


    • An association has been curated linking Col5a2 and thoracic aortic aneurysm 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 112 RGD objects have been annotated to thoracic aortic aneurysm  (DOID:14004)
  • 2 papers in RGD have been used to annotate Col5a2
  • Curation Notes: ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
  • Original References(s): PMID:11940702 PMID:17576681 PMID:20847697 PMID:23587214 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28166811 PMID:28213671 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:31829210 PMID:31847883 PMID:33161638 PMID:9536098


    • An association has been curated linking Col5a2 and thoracic aortic aneurysm 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 112 RGD objects have been annotated to thoracic aortic aneurysm  (DOID:14004)
  • 2 papers in RGD have been used to annotate Col5a2
  • Curation Notes: ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
  • Original References(s): PMID:11940702 PMID:17576681 PMID:20847697 PMID:23587214 PMID:25326637 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28213671 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:31829210 PMID:31847883 PMID:33161638 PMID:9536098


    • An association has been curated linking Col5a2 and thoracic aortic aneurysm 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 112 RGD objects have been annotated to thoracic aortic aneurysm  (DOID:14004)
  • 2 papers in RGD have been used to annotate Col5a2
  • Curation Notes: ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
  • Original References(s): PMID:11940702 PMID:17576681 PMID:20847697 PMID:23587214 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28213671 PMID:28485813 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:31829210 PMID:31847883 PMID:32736638 PMID:33161638 PMID:33974636 PMID:9536098


    • An association has been curated linking Col5a2 and thoracic aortic aneurysm 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 112 RGD objects have been annotated to thoracic aortic aneurysm  (DOID:14004)
  • 2 papers in RGD have been used to annotate Col5a2
  • Curation Notes: ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
  • Original References(s): PMID:11940702 PMID:17576681 PMID:20847697 PMID:23587214 PMID:25326637 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28213671 PMID:28485813 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:30919572 PMID:31829210 PMID:31847883 PMID:32736638 PMID:33161638 PMID:33974636 PMID:34265140 PMID:9536098


    • An association has been curated linking Col5a2 and thoracic aortic aneurysm 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 112 RGD objects have been annotated to thoracic aortic aneurysm  (DOID:14004)
  • 2 papers in RGD have been used to annotate Col5a2
  • Curation Notes: ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
  • Original References(s): PMID:11940702 PMID:16199547 PMID:17576681 PMID:20847697 PMID:23587214 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28213671 PMID:28485813 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:30919572 PMID:31538843 PMID:31829210 PMID:31847883 PMID:32736638 PMID:33161638 PMID:33974636 PMID:34265140 PMID:9536098


    • An association has been curated linking Col5a2 and thoracic aortic aneurysm 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 112 RGD objects have been annotated to thoracic aortic aneurysm  (DOID:14004)
  • 2 papers in RGD have been used to annotate Col5a2
  • Curation Notes: ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
  • Original References(s): PMID:11940702 PMID:16199547 PMID:17576681 PMID:20847697 PMID:23587214 PMID:25326637 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28213671 PMID:28485813 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:30467950 PMID:30675029 PMID:30919572 PMID:31538843 PMID:31829210 PMID:31847883 PMID:31903434 PMID:32736638 PMID:33161638 PMID:33974636 PMID:34265140 PMID:37079061 PMID:38534782 PMID:9536098


    • An association has been curated linking Col5a2 and thoracic aortic aneurysm 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 COL5A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 112 RGD objects have been annotated to thoracic aortic aneurysm  (DOID:14004)
  • 2 papers in RGD have been used to annotate Col5a2
  • Curation Notes: ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections
  • Original References(s): PMID:11940702 PMID:16199547 PMID:17576681 PMID:20847697 PMID:23587214 PMID:25326637 PMID:25741868 PMID:26608033 PMID:28087566 PMID:28132693 PMID:28213671 PMID:28485813 PMID:28492532 PMID:2855059 PMID:28550590 PMID:28855619 PMID:28991257 PMID:29543232 PMID:30467950 PMID:30675029 PMID:30919572 PMID:31538843 PMID:31829210 PMID:31847883 PMID:31903434 PMID:32736638 PMID:33082984 PMID:33161638 PMID:33974636 PMID:34265140 PMID:35753512 PMID:37079061 PMID:38534782 PMID:9536098


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