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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Slc39a12 and hypoparathyroidism-deafness-renal disease syndrome 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 SLC39A12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 71 RGD objects have been annotated to hypoparathyroidism-deafness-renal disease syndrome  (DOID:0060878)
  • 4 papers in RGD have been used to annotate Slc39a12
  • Curation Notes: ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
  • Original References(s): PMID:25741868


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