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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Ggcx and combined deficiency of vitamin K-dependent clotting factors 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Rost S, etal., Br J Haematol. 2004 Aug;126(4):546-9.
  • The annotation has been inferred from sequence orthology with GGCX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Rost S, etal., Br J Haematol. 2004 Aug;126(4):546-9.
  • 2 RGD objects have been annotated to combined deficiency of vitamin K-dependent clotting factors 1  (DOID:0112173)
  • 29 papers in RGD have been used to annotate Ggcx
  • Curation Notes: DNA:mutations:splice site,exon:


  • An association has been curated linking Ggcx and combined deficiency of vitamin K-dependent clotting factors 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Darghouth D, etal., Blood. 2006 Sep 15;108(6):1925-31. Epub 2006 May 23.
  • The annotation has been inferred from sequence orthology with GGCX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 additional annotations were made from Darghouth D, etal., Blood. 2006 Sep 15;108(6):1925-31. Epub 2006 May 23.
  • 2 RGD objects have been annotated to combined deficiency of vitamin K-dependent clotting factors 1  (DOID:0112173)
  • 29 papers in RGD have been used to annotate Ggcx
  • Curation Notes: DNA:missense mutations:cds:P.D31N,W157R,T157K(human)


  • An association has been curated linking Ggcx and combined deficiency of vitamin K-dependent clotting factors 1 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 GGCX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to combined deficiency of vitamin K-dependent clotting factors 1  (DOID:0112173)
  • 29 papers in RGD have been used to annotate Ggcx


  • An association has been curated linking Ggcx and combined deficiency of vitamin K-dependent clotting factors 1 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 GGCX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to combined deficiency of vitamin K-dependent clotting factors 1  (DOID:0112173)
  • 29 papers in RGD have been used to annotate Ggcx
  • Curation Notes: ClinVar Annotator: match by term: FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF | ClinVar Annotator: match by term: FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III | ClinVar Annotator: match by term: GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF | ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT
  • Original References(s): PMID:10934213 PMID:11071668 PMID:15287948 PMID:16720838 PMID:17144668 PMID:18800149 PMID:20075945 PMID:2145029 PMID:28125048 PMID:28492532 PMID:9845520


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