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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Slc12a1 and Gitelman syndrome in Heterocephalus glaber.        

  • 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 SLC12A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to Gitelman syndrome  (DOID:0050450)
  • 0 papers in RGD have been used to annotate Slc12a1
  • Curation Notes: ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia
  • Original References(s): PMID:8640224


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