Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

16 Annotations Found.

An association has been curated linking FGG and Congenital Dysfibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Huang D, etal., Pathology. 2015 Feb;47(2):145-50. doi: 10.1097/PAT.0000000000000213.
  • 2 additional annotations were made from Huang D, etal., Pathology. 2015 Feb;47(2):145-50. doi: 10.1097/PAT.0000000000000213.
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: DNA:deletion:intron:IVS9+1delG (human)


  • An association has been curated linking FGG and Congenital Dysfibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Liao Z, etal., Clin Chim Acta. 2014 Jan 20;428:106-9.
  • 2 additional annotations were made from Liao Z, etal., Clin Chim Acta. 2014 Jan 20;428:106-9.
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: DNA:missense mutation:exon:p.N308T (c.1001A>C) (human)


  • An association has been curated linking FGG and Congenital Dysfibrinogenemia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG


  • An association has been curated linking FGG and Congenital Dysfibrinogenemia 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:152155360 (Homo sapiens)
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
  • Original References(s): PMID:25741868 PMID:34355501


  • An association has been curated linking FGG and Congenital Dysfibrinogenemia 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)
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
  • 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 Dysfibrinogenemia 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)
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
  • Original References(s): PMID:11435303 PMID:25741868 PMID:28492532 PMID:31064749


  • An association has been curated linking FGG and Congenital Dysfibrinogenemia 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:8600182 (Homo sapiens)
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: FIBRINOGEN BALTIMORE 3
  • Original References(s): PMID:2328317 PMID:28492532 PMID:3175983


  • An association has been curated linking FGG and Congenital Dysfibrinogenemia 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
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 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 Dysfibrinogenemia 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:8600183 (Homo sapiens)
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
  • Original References(s): PMID:19923982 PMID:19949684 PMID:22836217 PMID:2496144 PMID:25741868


  • An association has been curated linking FGG and Congenital Dysfibrinogenemia 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:14975468 (Homo sapiens)
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
  • Original References(s): PMID:20135062 PMID:25741868 PMID:30349899 PMID:31064749 PMID:35975558


  • An association has been curated linking FGG and Congenital Dysfibrinogenemia 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)
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
  • 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 Dysfibrinogenemia 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)
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
  • 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 Dysfibrinogenemia 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)
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
  • Original References(s): PMID:17650452 PMID:25741868 PMID:31064749


  • An association has been curated linking FGG and Congenital Dysfibrinogenemia 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)
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
  • Original References(s): PMID:17849064 PMID:23061815 PMID:25741868 PMID:28492532 PMID:31064749 PMID:35853369


  • An association has been curated linking FGG and Congenital Dysfibrinogenemia 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:150520402|RGD:152981154|RGD:401947054 (Homo sapiens) & RGD:150520402|RGD:152981154|RGD:401947054 (Homo sapiens) & RGD:150520402|RGD:152981154|RGD:401947054 (Homo sapiens)
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Dysfibrinogenemia | ClinVar Annotator: match by term: Dysfibrinogenemia, congenital
  • Original References(s): PMID:25741868


  • An association has been curated linking FGG and Congenital Dysfibrinogenemia 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:401905467|RGD:405000135 (Homo sapiens) & RGD:401905467|RGD:405000135 (Homo sapiens)
  • 3 RGD objects have been annotated to Congenital Dysfibrinogenemia  (DOID:9003464)
  • 35 papers in RGD have been used to annotate FGG
  • Curation Notes: ClinVar Annotator: match by term: Dysfibrinogenemia, congenital


  • Go Back to source page   Continue to Ontology report