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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Hyal1 and mucopolysaccharidosis IX in Chinchilla lanigera.        

  • 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 HYAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to mucopolysaccharidosis IX  (DOID:0050809)
  • 2 papers in RGD have been used to annotate Hyal1


  • An association has been curated linking Hyal1 and mucopolysaccharidosis IX in Chinchilla lanigera.        

  • 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 HYAL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to mucopolysaccharidosis IX  (DOID:0050809)
  • 2 papers in RGD have been used to annotate Hyal1
  • Curation Notes: ClinVar Annotator: match by term: Deficiency of hyaluronoglucosaminidase | ClinVar Annotator: match by term: HYALURONIDASE DEFICIENCY
  • Original References(s): PMID:10339581 PMID:16199547 PMID:17576681 PMID:21559944 PMID:25741868 PMID:27424109 PMID:28492532 PMID:33942374 PMID:8793927 PMID:9536098


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