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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Gp9 and Bernard-Soulier syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Boeckelmann D, etal., Blood Cells Mol Dis. 2017 Sep;67:69-74. doi: 10.1016/j.bcmd.2017.01.010. Epub 2017 Jan 22.
  • The annotation has been inferred from sequence orthology with GP9 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 additional annotations were made from Boeckelmann D, etal., Blood Cells Mol Dis. 2017 Sep;67:69-74. doi: 10.1016/j.bcmd.2017.01.010. Epub 2017 Jan 22.
  • 4 RGD objects have been annotated to Bernard-Soulier syndrome  (DOID:2217)
  • 9 papers in RGD have been used to annotate Gp9
  • Qualifier: severity
  • Curation Notes: DNA:missense mutation:cds:c.182A>G(p.N61S)(human)


    • An association has been curated linking Gp9 and Bernard-Soulier syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Noda M, etal., Thromb Haemost. 1996 Dec;76(6):874-8.
  • The annotation has been inferred from sequence orthology with GP9 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Noda M, etal., Thromb Haemost. 1996 Dec;76(6):874-8.
  • 4 RGD objects have been annotated to Bernard-Soulier syndrome  (DOID:2217)
  • 9 papers in RGD have been used to annotate Gp9
  • Curation Notes: DNA:mutation:cds:p.C73Y(human)


    • An association has been curated linking Gp9 and Bernard-Soulier syndrome in Mus musculus.        

  • 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 GP9 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Bernard-Soulier syndrome  (DOID:2217)
  • 9 papers in RGD have been used to annotate Gp9


    • An association has been curated linking Gp9 and Bernard-Soulier syndrome in Mus musculus.        

  • 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 GP9 (Homo sapiens) [(EXP) inferred from experiment]
  • 4 RGD objects have been annotated to Bernard-Soulier syndrome  (DOID:2217)
  • 9 papers in RGD have been used to annotate Gp9
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Gp9 and Bernard-Soulier syndrome in Mus musculus.        

  • 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 GP9 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Bernard-Soulier syndrome  (DOID:2217)
  • 9 papers in RGD have been used to annotate Gp9
  • Curation Notes: ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Von Willebrand factor receptor deficiency
  • Original References(s): PMID:11167791 PMID:14510954 PMID:21173099 PMID:21699652 PMID:23402648 PMID:24934643 PMID:25370924 PMID:25539746 PMID:25741868 PMID:25949529 PMID:28131619 PMID:28395735 PMID:28399723 PMID:28492532 PMID:28561420 PMID:28765788 PMID:29043243 PMID:29636940 PMID:31064749 PMID:32202057 PMID:32581362 PMID:34355501 PMID:8049428 PMID:8481514 PMID:9163595 PMID:9432024


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