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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Otof and autosomal recessive nonsyndromic deafness in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Longo-Guess C, etal., Hear Res. 2007 Dec;234(1-2):21-8. Epub 2007 Sep 29.
  • The annotation has been inferred from sequence orthology with Otof (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Longo-Guess C, etal., Hear Res. 2007 Dec;234(1-2):21-8. Epub 2007 Sep 29.
  • 142 RGD objects have been annotated to autosomal recessive nonsyndromic deafness  (DOID:0050565)
  • 24 papers in RGD have been used to annotate Otof
  • Curation Notes: DNA:missense mutation:cds:p.I318N (mouse)


    • An association has been curated linking Otof and autosomal recessive nonsyndromic deafness 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 OTOF (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 142 RGD objects have been annotated to autosomal recessive nonsyndromic deafness  (DOID:0050565)
  • 24 papers in RGD have been used to annotate Otof
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive
  • Original References(s): PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:20301429 PMID:22575033 PMID:24033266 PMID:25741868 PMID:26632695 PMID:27082237 PMID:28492532 PMID:30303587 PMID:34113375


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