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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Kcnj10 and Pendred syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to Pendred syndrome  (DOID:0060744)
  • 2 papers in RGD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
  • Original References(s): PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 PMID:21458570 PMID:21849804 PMID:22612257 PMID:23869231 PMID:23924083 PMID:24193250 PMID:24561201 PMID:25741868 PMID:26467025 PMID:26867573 PMID:27171548 PMID:27677466 PMID:27875746 PMID:28492532 PMID:28747464 PMID:32062759


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