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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking RSU1 and hypoparathyroidism-deafness-renal disease syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14350360 (Homo sapiens)
  • 75 RGD objects have been annotated to hypoparathyroidism-deafness-renal disease syndrome  (DOID:0060878)
  • 2 papers in RGD have been used to annotate RSU1
  • Curation Notes: ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
  • Original References(s): PMID:25741868


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