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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Fgb and Congenital Dysfibrinogenemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Jiang M, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Apr;31(2):134-9. doi: 10.3760/cma.j.issn.1003-9406.2014.02.002.
  • The annotation has been inferred from sequence orthology with FGB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Jiang M, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Apr;31(2):134-9. doi: 10.3760/cma.j.issn.1003-9406.2014.02.002.
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 37 papers in RGD have been used to annotate Fgb
  • Curation Notes: DNA:mutation:missense mutation:g.g.9692A>G(human)


    • An association has been curated linking Fgb and Congenital Dysfibrinogenemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Neerman-Arbez M, etal., Blood. 2003 May 1;101(9):3492-4. Epub 2003 Jan 2.
  • The annotation has been inferred from sequence orthology with FGB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Neerman-Arbez M, etal., Blood. 2003 May 1;101(9):3492-4. Epub 2003 Jan 2.
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 37 papers in RGD have been used to annotate Fgb
  • Curation Notes: DNA:nonsense mutation:cds:p.w467X(human)


    • An association has been curated linking Fgb and Congenital Dysfibrinogenemia 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 FGB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 37 papers in RGD have been used to annotate Fgb


    • An association has been curated linking Fgb and Congenital Dysfibrinogenemia 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 FGB (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 37 papers in RGD have been used to annotate Fgb
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Fgb and Congenital Dysfibrinogenemia 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 FGB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 37 papers in RGD have been used to annotate Fgb
  • Curation Notes: ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
  • Original References(s): PMID:10688828 PMID:19229055 PMID:19420351 PMID:20978265 PMID:21959590 PMID:24033266 PMID:25741868 PMID:26105150 PMID:26561523 PMID:28492532 PMID:31064749 PMID:32935436 PMID:33477601


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