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GENE - TERM ANNOTATION REPORT

25 Annotations Found.

An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Margaglione M, etal., Blood 2000 Oct 1;96(7):2501-5.
  • 2 additional annotations were made from Margaglione M, etal., Blood 2000 Oct 1;96(7):2501-5.
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: DNA:snp:intron:IVS3+5G>A (human)


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Neerman-Arbez M, etal., Blood. 2004 Dec 1;104(12):3618-23. Epub 2004 Jul 29.
  • 2 additional annotations were made from Neerman-Arbez M, etal., Blood. 2004 Dec 1;104(12):3618-23. Epub 2004 Jul 29.
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: DNA:nonsense mutation:exon:p.R134X (human)


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8565573 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Congenital afibrinogenemia
  • Original References(s): PMID:1471077 PMID:17854317


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11666608 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Congenital afibrinogenemia
  • Original References(s): PMID:16144795


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8565572 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Congenital afibrinogenemia
  • Original References(s): PMID:11001903


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13528092 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Congenital afibrinogenemia
  • Original References(s): PMID:24033266


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8565571 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Hypofibrinogenemia
  • Original References(s): PMID:11001902 PMID:25741868 PMID:31064749


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600180 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Hypofibrinogenemia
  • Original References(s): PMID:1733971 PMID:2512677 PMID:25741868 PMID:2976995 PMID:31064749 PMID:34355501 PMID:3563970 PMID:6654188


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8565569 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: FIBRINOGEN PARIS 1
  • Original References(s): PMID:1249208 PMID:4427684 PMID:8470043


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600190 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Hypofibrinogenemia
  • Original References(s): PMID:11435303 PMID:25741868 PMID:28492532 PMID:31064749


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14975803 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Congenital afibrinogenemia
  • Original References(s): PMID:23560673 PMID:24556703 PMID:25741868 PMID:28492532 PMID:30418131 PMID:31064749


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • 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 Fgg (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: OMIM:202400


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens) & RGD:11584547|RGD:11586234|RGD:11586749|RGD:11591117|RGD:11656404|RGD:11660736|RGD:11661886|RGD:15173971|RGD:152981155|RGD:28878185|RGD:28878190|RGD:28878196|RGD:28883184|RGD:28883190|RGD:28903422|RGD:28903428 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8565569 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: FIBRINOGEN PARIS 1
  • Original References(s): PMID:1249208 PMID:25741868 PMID:4427684 PMID:8470043


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:127261338|RGD:127261339|RGD:127261342|RGD:127261345|RGD:152981154|RGD:28871616|RGD:28878191|RGD:401855760 (Homo sapiens) & RGD:127261338|RGD:127261339|RGD:127261342|RGD:127261345|RGD:152981154|RGD:28871616|RGD:28878191|RGD:401855760 (Homo sapiens) & RGD:127261338|RGD:127261339|RGD:127261342|RGD:127261345|RGD:152981154|RGD:28871616|RGD:28878191|RGD:401855760 (Homo sapiens) & RGD:127261338|RGD:127261339|RGD:127261342|RGD:127261345|RGD:152981154|RGD:28871616|RGD:28878191|RGD:401855760 (Homo sapiens) & RGD:127261338|RGD:127261339|RGD:127261342|RGD:127261345|RGD:152981154|RGD:28871616|RGD:28878191|RGD:401855760 (Homo sapiens) & RGD:127261338|RGD:127261339|RGD:127261342|RGD:127261345|RGD:152981154|RGD:28871616|RGD:28878191|RGD:401855760 (Homo sapiens) & RGD:127261338|RGD:127261339|RGD:127261342|RGD:127261345|RGD:152981154|RGD:28871616|RGD:28878191|RGD:401855760 (Homo sapiens) & RGD:127261338|RGD:127261339|RGD:127261342|RGD:127261345|RGD:152981154|RGD:28871616|RGD:28878191|RGD:401855760 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia
  • Original References(s): PMID:25741868


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14975440 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Hypofibrinogenemia
  • Original References(s): PMID:17650452 PMID:25741868 PMID:31064749


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:28871622 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Congenital afibrinogenemia
  • Original References(s): PMID:21725578 PMID:28492532 PMID:31479941


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8600179 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Hypofibrinogenemia
  • Original References(s): PMID:10911375 PMID:25320241 PMID:25741868 PMID:2617471 PMID:29351094 PMID:2971042 PMID:31064749 PMID:32877852 PMID:3337908 PMID:33443927 PMID:34275736 PMID:4002201 PMID:6886002 PMID:7635941 PMID:7654933


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13704249 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Congenital afibrinogenemia
  • Original References(s): PMID:10688828 PMID:15795540 PMID:17938819 PMID:19300242 PMID:21228398 PMID:24033266 PMID:25039884 PMID:25741868 PMID:26105150 PMID:28211264 PMID:28492532 PMID:29240685 PMID:30349899 PMID:30431218 PMID:30487145 PMID:30632992 PMID:31064749 PMID:31295712 PMID:31352677 PMID:31479941 PMID:32852326 PMID:33477601 PMID:35809055 PMID:37583269


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:21069025 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Congenital afibrinogenemia
  • Original References(s): PMID:25320241 PMID:28492532


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14975500 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Hypofibrinogenemia
  • Original References(s): PMID:17849064 PMID:23061815 PMID:25741868 PMID:28492532 PMID:31064749 PMID:35853369


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14975638|RGD:14975707|RGD:14975731 (Homo sapiens) & RGD:14975638|RGD:14975707|RGD:14975731 (Homo sapiens) & RGD:14975638|RGD:14975707|RGD:14975731 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Hypofibrinogenemia
  • Original References(s): PMID:25741868 PMID:31064749


    • An association has been curated linking FGG and congenital afibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11582365|RGD:11591495|RGD:11595369|RGD:11596615|RGD:15173281 (Homo sapiens) & RGD:11582365|RGD:11591495|RGD:11595369|RGD:11596615|RGD:15173281 (Homo sapiens) & RGD:11582365|RGD:11591495|RGD:11595369|RGD:11596615|RGD:15173281 (Homo sapiens) & RGD:11582365|RGD:11591495|RGD:11595369|RGD:11596615|RGD:15173281 (Homo sapiens) & RGD:11582365|RGD:11591495|RGD:11595369|RGD:11596615|RGD:15173281 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital afibrinogenemia  (DOID:2236)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Congenital afibrinogenemia
  • Original References(s): PMID:28492532


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