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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Sgsh and mucopolysaccharidosis III in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SGSH (Homo sapiens) [(EXP) inferred from experiment]
  • 17 RGD objects have been annotated to mucopolysaccharidosis III  (DOID:12801)
  • 4 papers in RGD have been used to annotate Sgsh
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Sgsh and mucopolysaccharidosis III in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 17 RGD objects have been annotated to mucopolysaccharidosis III  (DOID:12801)
  • 4 papers in RGD have been used to annotate Sgsh
  • Curation Notes: OMIM:252900 | OMIM:252920 | OMIM:252930 | OMIM:252940


    • An association has been curated linking Sgsh and mucopolysaccharidosis III in Mus musculus.        

  • 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 SGSH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 17 RGD objects have been annotated to mucopolysaccharidosis III  (DOID:12801)
  • 4 papers in RGD have been used to annotate Sgsh
  • Curation Notes: ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome
  • Original References(s): PMID:10521831 PMID:10601282 PMID:10727844 PMID:11182930 PMID:11343308 PMID:11668611 PMID:12000360 PMID:12490062 PMID:12702166 PMID:15146460 PMID:15542396 PMID:18407553 PMID:19099774 PMID:21061399 PMID:21204211 PMID:21671382 PMID:21910976 PMID:22002444 PMID:22976768 PMID:22976788 PMID:24314109 PMID:24816101 PMID:24875751 PMID:25557439 PMID:25741868 PMID:26331342 PMID:26648750 PMID:26787381 PMID:27590925 PMID:28492532 PMID:28844463 PMID:29023963 PMID:30809705 PMID:31536183 PMID:32581362 PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 PMID:9744479


    • An association has been curated linking Sgsh and mucopolysaccharidosis III in Mus musculus.        

  • 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 SGSH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 17 RGD objects have been annotated to mucopolysaccharidosis III  (DOID:12801)
  • 4 papers in RGD have been used to annotate Sgsh
  • Curation Notes: ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome
  • Original References(s): PMID:10521831 PMID:10601282 PMID:10727844 PMID:11182930 PMID:11343308 PMID:11668611 PMID:12000360 PMID:12490062 PMID:15146460 PMID:15542396 PMID:18407553 PMID:19099774 PMID:21061399 PMID:21204211 PMID:21671382 PMID:21910976 PMID:22002444 PMID:22976768 PMID:22976788 PMID:24314109 PMID:24816101 PMID:24875751 PMID:25557439 PMID:25741868 PMID:26331342 PMID:26648750 PMID:26787381 PMID:27590925 PMID:28492532 PMID:28844463 PMID:29023963 PMID:30809705 PMID:31536183 PMID:32581362 PMID:9158154 PMID:9285796 PMID:9401012 PMID:9554748 PMID:9700599 PMID:9744479


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