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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Gjb6 and X-linked deafness 2 in Chinchilla lanigera.        

  • 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 GJB6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to X-linked deafness 2  (DOID:0111737)
  • 2 papers in RGD have been used to annotate Gjb6
  • Curation Notes: ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear
  • Original References(s): PMID:10730756 PMID:11017065 PMID:12419304 PMID:12788524 PMID:14708603 PMID:15213106 PMID:15769851 PMID:17160938 PMID:20536673 PMID:22106692 PMID:23219093 PMID:23863883 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24052723 PMID:24514865 PMID:24522190 PMID:24685692 PMID:25741868 PMID:26551294 PMID:27068579 PMID:27137747 PMID:27817781 PMID:28492532 PMID:30620052 PMID:31015822


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