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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking Itga2b and platelet-type bleeding disorder 16 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Kannan M, etal., J Thromb Haemost. 2009 Nov;7(11):1878-85. doi: 10.1111/j.1538-7836.2009.03579.x. Epub 2009 Aug 19.
  • The annotation has been inferred from sequence orthology with ITGA2B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Kannan M, etal., J Thromb Haemost. 2009 Nov;7(11):1878-85. doi: 10.1111/j.1538-7836.2009.03579.x. Epub 2009 Aug 19.
  • 2 RGD objects have been annotated to platelet-type bleeding disorder 16  (DOID:0060691)
  • 25 papers in RGD have been used to annotate Itga2b
  • Curation Notes: DNA:mutations:promoter, exon:multiple


  • An association has been curated linking Itga2b and platelet-type bleeding disorder 16 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Pillois X, etal., Platelets. 2013;24(1):77-80. doi: 10.3109/09537104.2012.665278. Epub 2012 Mar 6.
  • The annotation has been inferred from sequence orthology with ITGA2B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Pillois X, etal., Platelets. 2013;24(1):77-80. doi: 10.3109/09537104.2012.665278. Epub 2012 Mar 6.
  • 2 RGD objects have been annotated to platelet-type bleeding disorder 16  (DOID:0060691)
  • 25 papers in RGD have been used to annotate Itga2b
  • Curation Notes: DNA:mutation:cds:p.G13V(human)


  • An association has been curated linking Itga2b and platelet-type bleeding disorder 16 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Farsinejad A, etal., Blood Coagul Fibrinolysis. 2013 Sep;24(6):613-8. doi: 10.1097/MBC.0b013e328360a558.
  • The annotation has been inferred from sequence orthology with ITGA2B (Homo sapiens) [(IEP) inferred from expression pattern]
  • 5 additional annotations were made from Farsinejad A, etal., Blood Coagul Fibrinolysis. 2013 Sep;24(6):613-8. doi: 10.1097/MBC.0b013e328360a558.
  • 2 RGD objects have been annotated to platelet-type bleeding disorder 16  (DOID:0060691)
  • 25 papers in RGD have been used to annotate Itga2b


  • An association has been curated linking Itga2b and platelet-type bleeding disorder 16 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with ITGA2B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to platelet-type bleeding disorder 16  (DOID:0060691)
  • 25 papers in RGD have been used to annotate Itga2b


  • An association has been curated linking Itga2b and platelet-type bleeding disorder 16 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Mansour W, etal., J Thromb Haemost. 2011 Jan;9(1):192-200. doi: 10.1111/j.1538-7836.2010.04087.x.
  • The annotation has been inferred from sequence orthology with ITGA2B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Mansour W, etal., J Thromb Haemost. 2011 Jan;9(1):192-200. doi: 10.1111/j.1538-7836.2010.04087.x.
  • 2 RGD objects have been annotated to platelet-type bleeding disorder 16  (DOID:0060691)
  • 25 papers in RGD have been used to annotate Itga2b
  • Curation Notes: DNA:missense mutation: :p.N2D (97A>G) (human)


  • An association has been curated linking Itga2b and platelet-type bleeding disorder 16 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 ITGA2B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to platelet-type bleeding disorder 16  (DOID:0060691)
  • 25 papers in RGD have been used to annotate Itga2b
  • Curation Notes: ClinVar Annotator: match by term: Platelet-type bleeding disorder 16
  • Original References(s): PMID:10607701 PMID:14687991 PMID:15099289 PMID:1638023 PMID:16722529 PMID:18065693 PMID:19691478 PMID:19805198 PMID:20020534 PMID:20081061 PMID:21454453 PMID:21917754 PMID:22102273 PMID:25539746 PMID:25728920 PMID:25741868 PMID:25749862 PMID:25944497 PMID:27469266 PMID:28492532 PMID:29090484 PMID:31064749 PMID:31119735 PMID:32139434 PMID:32237906 PMID:32581362 PMID:33276370 PMID:34355501 PMID:9215749 PMID:9834222


  • An association has been curated linking Itga2b and platelet-type bleeding disorder 16 in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
  •  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Itga2b (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to platelet-type bleeding disorder 16  (DOID:0060691)
  • 25 papers in RGD have been used to annotate Itga2b
  • Curation Notes: OMIM:187800


  • An association has been curated linking Itga2b and platelet-type bleeding disorder 16 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 ITGA2B (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to platelet-type bleeding disorder 16  (DOID:0060691)
  • 25 papers in RGD have been used to annotate Itga2b
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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