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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cldn19 and renal hypomagnesemia 5 with ocular involvement in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with CLDN19 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to renal hypomagnesemia 5 with ocular involvement  (DOID:0060881)
  • 0 papers in RGD have been used to annotate Cldn19


    • An association has been curated linking Cldn19 and renal hypomagnesemia 5 with ocular involvement in Ictidomys tridecemlineatus.        

  • 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 CLDN19 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to renal hypomagnesemia 5 with ocular involvement  (DOID:0060881)
  • 0 papers in RGD have been used to annotate Cldn19
  • Curation Notes: ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive | ClinVar Annotator: match by term: Renal hypomagnesemia 5 with ocular involvement
  • Original References(s): PMID:17033971 PMID:18188451 PMID:22422540 PMID:23301036 PMID:25366522 PMID:25410674 PMID:25741868 PMID:27530400 PMID:28492532 PMID:28893421 PMID:33025205 PMID:33532864 PMID:34805638


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