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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking IDS and mucopolysaccharidosis III 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:8561720 (Homo sapiens)
  • 30 RGD objects have been annotated to mucopolysaccharidosis III  (DOID:12801)
  • 7 papers in RGD have been used to annotate IDS
  • Curation Notes: ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency
  • Original References(s): PMID:1303211 PMID:1550586 PMID:18414213 PMID:18500569 PMID:21291454 PMID:21829674 PMID:25741868 PMID:27146977 PMID:28492532 PMID:8318991


    • An association has been curated linking IDS and mucopolysaccharidosis III 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:150464921 (Homo sapiens)
  • 30 RGD objects have been annotated to mucopolysaccharidosis III  (DOID:12801)
  • 7 papers in RGD have been used to annotate IDS
  • Curation Notes: ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency
  • Original References(s): PMID:25741868


    • An association has been curated linking IDS and mucopolysaccharidosis III 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:10050621|RGD:13467277|RGD:15138817|RGD:15142113|RGD:15177123|RGD:15186732 (Homo sapiens) & RGD:10050621|RGD:13467277|RGD:15138817|RGD:15142113|RGD:15177123|RGD:15186732 (Homo sapiens) & RGD:10050621|RGD:13467277|RGD:15138817|RGD:15142113|RGD:15177123|RGD:15186732 (Homo sapiens) & RGD:10050621|RGD:13467277|RGD:15138817|RGD:15142113|RGD:15177123|RGD:15186732 (Homo sapiens) & RGD:10050621|RGD:13467277|RGD:15138817|RGD:15142113|RGD:15177123|RGD:15186732 (Homo sapiens) & RGD:10050621|RGD:13467277|RGD:15138817|RGD:15142113|RGD:15177123|RGD:15186732 (Homo sapiens)
  • 30 RGD objects have been annotated to mucopolysaccharidosis III  (DOID:12801)
  • 7 papers in RGD have been used to annotate IDS
  • Curation Notes: ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency
  • Original References(s): PMID:25741868 PMID:28492532


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