Send us a Message



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

GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Wfs1 and sensorineural hearing loss in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Bespalova IN, etal., Hum Mol Genet. 2001 Oct 15;10(22):2501-8.
  • The annotation has been inferred from sequence orthology with WFS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Bespalova IN, etal., Hum Mol Genet. 2001 Oct 15;10(22):2501-8.
  • 648 RGD objects have been annotated to sensorineural hearing loss  (DOID:10003)
  • 34 papers in RGD have been used to annotate Wfs1
  • Curation Notes: DNA:missense mutations: :multiple


  • An association has been curated linking Wfs1 and sensorineural hearing loss in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Kytovuori L, etal., J Hum Genet. 2013 Aug;58(8):495-500. doi: 10.1038/jhg.2013.29. Epub 2013 Apr 18.
  • The annotation has been inferred from sequence orthology with WFS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 additional annotations were made from Kytovuori L, etal., J Hum Genet. 2013 Aug;58(8):495-500. doi: 10.1038/jhg.2013.29. Epub 2013 Apr 18.
  • 648 RGD objects have been annotated to sensorineural hearing loss  (DOID:10003)
  • 34 papers in RGD have been used to annotate Wfs1
  • Curation Notes: DNA:missense mutation:cds:p.R456H (rs1801206) (human)


  • An association has been curated linking Wfs1 and sensorineural hearing loss in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Domenech E, etal., Eur J Hum Genet. 2002 Jul;10(7):421-6.
  • The annotation has been inferred from sequence orthology with WFS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Domenech E, etal., Eur J Hum Genet. 2002 Jul;10(7):421-6.
  • 648 RGD objects have been annotated to sensorineural hearing loss  (DOID:10003)
  • 34 papers in RGD have been used to annotate Wfs1
  • Curation Notes: associated with Diabetes Mellitus, Type 2


  • An association has been curated linking Wfs1 and sensorineural hearing loss 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 WFS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 648 RGD objects have been annotated to sensorineural hearing loss  (DOID:10003)
  • 34 papers in RGD have been used to annotate Wfs1
  • Curation Notes: ClinVar Annotator: match by term: Sensorineural hearing loss
  • Original References(s): PMID:12107816 PMID:22238590 PMID:24033266 PMID:25741868 PMID:28492532


  • Go Back to source page   Continue to Ontology report