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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Diaph3 and autosomal dominant auditory neuropathy 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with DIAPH3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant auditory neuropathy 1  (DOID:0060690)
  • 7 papers in RGD have been used to annotate Diaph3


    • An association has been curated linking Diaph3 and autosomal dominant auditory neuropathy 1 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 DIAPH3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant auditory neuropathy 1  (DOID:0060690)
  • 7 papers in RGD have been used to annotate Diaph3
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1
  • Original References(s): PMID:20624953 PMID:25741868 PMID:27658576 PMID:28492532


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