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

GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking Fxn and Friedreich ataxia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Delatycki MB, etal., Hum Genet. 1999 Oct;105(4):343-6.
  • The annotation has been inferred from sequence orthology with FXN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Delatycki MB, etal., Hum Genet. 1999 Oct;105(4):343-6.
  • 2 CRRD objects have been annotated to Friedreich ataxia  (DOID:12705)
  • 17 papers in CRRD have been used to annotate Fxn
  • Curation Notes: DNA:point mutation:exon:p.G130V


  • An association has been curated linking Fxn and Friedreich ataxia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Campuzano V, etal., Science. 1996 Mar 8;271(5254):1423-7.
  • The annotation has been inferred from sequence orthology with FXN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Campuzano V, etal., Science. 1996 Mar 8;271(5254):1423-7.
  • 2 CRRD objects have been annotated to Friedreich ataxia  (DOID:12705)
  • 17 papers in CRRD have been used to annotate Fxn
  • Curation Notes: DNA:repeat:intron:GAA (human)


  • An association has been curated linking Fxn and Friedreich ataxia 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 FXN (Homo sapiens) [(EXP) inferred from experiment]
  • 2 CRRD objects have been annotated to Friedreich ataxia  (DOID:12705)
  • 17 papers in CRRD have been used to annotate Fxn
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:12923074, PMID:16120311, PMID:16239244, PMID:16911956, PMID:17101455, PMID:20098685, PMID:22016819, PMID:23418481, PMID:26954031, PMID:29272104, PMID:30451920


  • An association has been curated linking Fxn and Friedreich ataxia 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 FXN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Friedreich ataxia  (DOID:12705)
  • 17 papers in CRRD have been used to annotate Fxn
  • Curation Notes: ClinVar Annotator: match by synonym: Friedreich's ataxia
  • Original References(s): PMID:8596916


  • An association has been curated linking Fxn and Friedreich ataxia 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 FXN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Friedreich ataxia  (DOID:12705)
  • 17 papers in CRRD have been used to annotate Fxn
  • Curation Notes: ClinVar Annotator: match by synonym: Friedreich's ataxia
  • Original References(s): PMID:17703324


  • An association has been curated linking Fxn and Friedreich ataxia 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 FXN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Friedreich ataxia  (DOID:12705)
  • 17 papers in CRRD have been used to annotate Fxn
  • Curation Notes: ClinVar Annotator: match by synonym: Friedreich's ataxia
  • Original References(s): PMID:17331979, PMID:8596916, PMID:9700204


  • An association has been curated linking Fxn and Friedreich ataxia 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 FXN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Friedreich ataxia  (DOID:12705)
  • 17 papers in CRRD have been used to annotate Fxn
  • Curation Notes: ClinVar Annotator: match by synonym: Friedreich's ataxia
  • Original References(s): PMID:9737785


  • An association has been curated linking Fxn and Friedreich ataxia 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 FXN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Friedreich ataxia  (DOID:12705)
  • 17 papers in CRRD have been used to annotate Fxn
  • Curation Notes: ClinVar Annotator: match by synonym: Friedreich's ataxia
  • Original References(s): PMID:17331979, PMID:17703324, PMID:9989622


  • An association has been curated linking Fxn and Friedreich ataxia 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 FXN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 CRRD objects have been annotated to Friedreich ataxia  (DOID:12705)
  • 17 papers in CRRD have been used to annotate Fxn
  • Curation Notes: ClinVar Annotator: match by term: Friedreich's ataxia
  • Original References(s): PMID:10543403, PMID:10732799, PMID:11020385, PMID:11030757, PMID:11843702, PMID:12019217, PMID:17331979, PMID:18537827, PMID:19494730, PMID:19629184, PMID:21298097, PMID:26339677, PMID:26467025, PMID:26704351, PMID:28812047, PMID:9150176, PMID:9700204, PMID:9989622


  • Go Back to source page   Continue to Ontology report



    NHLBI Logo

    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.