Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking OTOF and Prelingual sensorineural hearing impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Yasunaga S, etal., Am J Hum Genet 2000 Sep;67(3):591-600. Epub 2000 Jul 19.
  • 3 additional annotations were made from Yasunaga S, etal., Am J Hum Genet 2000 Sep;67(3):591-600. Epub 2000 Jul 19.
  • 18 RGD objects have been annotated to Prelingual sensorineural hearing impairment  (HP:0000399)
  • 18 papers in RGD have been used to annotate OTOF


    • An association has been curated linking OTOF and Prelingual sensorineural hearing impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Migliosi V, etal., J Med Genet. 2002 Jul;39(7):502-6.
  • 3 additional annotations were made from Migliosi V, etal., J Med Genet. 2002 Jul;39(7):502-6.
  • 18 RGD objects have been annotated to Prelingual sensorineural hearing impairment  (HP:0000399)
  • 18 papers in RGD have been used to annotate OTOF
  • Curation Notes: DNA:nonsense mutation:cds:p.Q829X


    • An association has been curated linking OTOF and Prelingual sensorineural hearing impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Rodriguez-Ballesteros M, etal., Hum Mutat. 2003 Dec;22(6):451-6.
  • 3 additional annotations were made from Rodriguez-Ballesteros M, etal., Hum Mutat. 2003 Dec;22(6):451-6.
  • 18 RGD objects have been annotated to Prelingual sensorineural hearing impairment  (HP:0000399)
  • 18 papers in RGD have been used to annotate OTOF
  • Curation Notes: DNA:snps, deletion:cds:multiple


    • An association has been curated linking OTOF and Prelingual sensorineural hearing impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Yasunaga S, etal., Nat Genet. 1999 Apr;21(4):363-9.
  • 3 additional annotations were made from Yasunaga S, etal., Nat Genet. 1999 Apr;21(4):363-9.
  • 18 RGD objects have been annotated to Prelingual sensorineural hearing impairment  (HP:0000399)
  • 18 papers in RGD have been used to annotate OTOF
  • Curation Notes: DNA:nonsense mutation:cds:p.Y730X


    • An association has been curated linking OTOF and Prelingual sensorineural hearing impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Tekin M, etal., Am J Med Genet A. 2005 Sep 15;138(1):6-10.
  • 3 additional annotations were made from Tekin M, etal., Am J Med Genet A. 2005 Sep 15;138(1):6-10.
  • 18 RGD objects have been annotated to Prelingual sensorineural hearing impairment  (HP:0000399)
  • 18 papers in RGD have been used to annotate OTOF
  • Curation Notes: DNA:missense mutation:cds:p.L1011P


    • An association has been curated linking OTOF and Prelingual sensorineural hearing impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Matsunaga T, etal., Clin Genet. 2012 Nov;82(5):425-32. doi: 10.1111/j.1399-0004.2012.01897.x. Epub 2012 Jun 1.
  • 6 additional annotations were made from Matsunaga T, etal., Clin Genet. 2012 Nov;82(5):425-32. doi: 10.1111/j.1399-0004.2012.01897.x. Epub 2012 Jun 1.
  • 18 RGD objects have been annotated to Prelingual sensorineural hearing impairment  (HP:0000399)
  • 18 papers in RGD have been used to annotate OTOF
  • Curation Notes: DNA:missense mutation:cds:p.R1939Q


    • Go Back to source page   Continue to Ontology report