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1 Annotations Found.

An association has been curated linking Akr1e1 and hypoparathyroidism-deafness-renal disease syndrome in Mus musculus.        

  • 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 AKR1E2 (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 Akr1e1
  • Curation Notes: ClinVar Annotator: match by term: Barakat syndrome
  • Original References(s): PMID:25741868

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.