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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking Fgg and Congenital Hypodysfibrinogenemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Brennan SO, etal., Hepatology. 2002 Sep;36(3):652-8.
  • The annotation has been inferred from sequence orthology with FGG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Brennan SO, etal., Hepatology. 2002 Sep;36(3):652-8.
  • 3 RGD objects have been annotated to Congenital Hypodysfibrinogenemia  (DOID:9004929)
  • 49 papers in RGD have been used to annotate Fgg
  • Curation Notes: DNA:missense mutation:exon:p.R375W (human)


    • An association has been curated linking Fgg and Congenital Hypodysfibrinogenemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Meyer M, etal., Blood Coagul Fibrinolysis. 2006 Jan;17(1):63-7.
  • The annotation has been inferred from sequence orthology with FGG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Meyer M, etal., Blood Coagul Fibrinolysis. 2006 Jan;17(1):63-7.
  • 3 RGD objects have been annotated to Congenital Hypodysfibrinogenemia  (DOID:9004929)
  • 49 papers in RGD have been used to annotate Fgg
  • Curation Notes: DNA:missense mutation: :p.S313N (7590G>A) (human)


    • An association has been curated linking Fgg and Congenital Hypodysfibrinogenemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Zhu L, etal., Blood Coagul Fibrinolysis. 2013 Sep;24(6):642-4. doi: 10.1097/MBC.0b013e32835facdc.
  • The annotation has been inferred from sequence orthology with FGG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Zhu L, etal., Blood Coagul Fibrinolysis. 2013 Sep;24(6):642-4. doi: 10.1097/MBC.0b013e32835facdc.
  • 3 RGD objects have been annotated to Congenital Hypodysfibrinogenemia  (DOID:9004929)
  • 49 papers in RGD have been used to annotate Fgg
  • Curation Notes: DNA:missense mutation:exon:p.T277R (7482G>C) (human)


    • An association has been curated linking Fgg and Congenital Hypodysfibrinogenemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Song KS, etal., Clin Appl Thromb Hemost. 2006 Jul;12(3):338-43.
  • The annotation has been inferred from sequence orthology with FGG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Song KS, etal., Clin Appl Thromb Hemost. 2006 Jul;12(3):338-43.
  • 3 RGD objects have been annotated to Congenital Hypodysfibrinogenemia  (DOID:9004929)
  • 49 papers in RGD have been used to annotate Fgg
  • Curation Notes: DNA:missense mutation:exon:p.A341D (human


    • An association has been curated linking Fgg and Congenital Hypodysfibrinogenemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Zhu L, etal., Blood Coagul Fibrinolysis. 2014 Dec;25(8):894-7. doi: 10.1097/MBC.0000000000000156.
  • The annotation has been inferred from sequence orthology with FGG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Zhu L, etal., Blood Coagul Fibrinolysis. 2014 Dec;25(8):894-7. doi: 10.1097/MBC.0000000000000156.
  • 3 RGD objects have been annotated to Congenital Hypodysfibrinogenemia  (DOID:9004929)
  • 49 papers in RGD have been used to annotate Fgg
  • Curation Notes: DNA:missense mutations:exon:p.W208L (g.5792G>T), p.K232T (g.5864A>C) (human)


    • An association has been curated linking Fgg and Congenital Hypodysfibrinogenemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Asselta R, etal., J Thromb Haemost. 2015 Aug;13(8):1459-67. doi: 10.1111/jth.13021. Epub 2015 Jul 14.
  • The annotation has been inferred from sequence orthology with FGG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Asselta R, etal., J Thromb Haemost. 2015 Aug;13(8):1459-67. doi: 10.1111/jth.13021. Epub 2015 Jul 14.
  • 3 RGD objects have been annotated to Congenital Hypodysfibrinogenemia  (DOID:9004929)
  • 49 papers in RGD have been used to annotate Fgg
  • Curation Notes: DNA:missense mutations: :p.D316N, p.G366S (human)


    • An association has been curated linking Fgg and Congenital Hypodysfibrinogenemia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Sumitha E, etal., Haemophilia. 2013 Jul;19(4):611-8. doi: 10.1111/hae.12143. Epub 2013 Apr 8.
  • The annotation has been inferred from sequence orthology with FGG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Sumitha E, etal., Haemophilia. 2013 Jul;19(4):611-8. doi: 10.1111/hae.12143. Epub 2013 Apr 8.
  • 3 RGD objects have been annotated to Congenital Hypodysfibrinogenemia  (DOID:9004929)
  • 49 papers in RGD have been used to annotate Fgg
  • Curation Notes: DNA:frameshift mutation: :c.554delA (human)


    • An association has been curated linking Fgg and Congenital Hypodysfibrinogenemia 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 FGG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Congenital Hypodysfibrinogenemia  (DOID:9004929)
  • 49 papers in RGD have been used to annotate Fgg
  • Curation Notes: ClinVar Annotator: match by term: FIBRINOGEN HAIFA 1 | ClinVar Annotator: match by term: FIBRINOGEN TOKYO 2 | ClinVar Annotator: match by term: Hypodysfibrinogenemia
  • Original References(s): PMID:10911375 PMID:11344575 PMID:15632207 PMID:1733971 PMID:2512677 PMID:25320241 PMID:25741868 PMID:2617471 PMID:29351094 PMID:2971042 PMID:2976995 PMID:31064749 PMID:32877852 PMID:3337908 PMID:33443927 PMID:34275736 PMID:34355501 PMID:3563970 PMID:4002201 PMID:6654188 PMID:6886002 PMID:7635941 PMID:7654933


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