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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking IDUA and mucopolysaccharidosis IVA 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:126909310 (Homo sapiens)
  • 18 RGD objects have been annotated to mucopolysaccharidosis IVA  (DOID:0111391)
  • 30 papers in RGD have been used to annotate IDUA
  • Curation Notes: ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A
  • Original References(s): PMID:12559846 PMID:18792977 PMID:25741868 PMID:28492532 PMID:28676128


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