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QuickView for sialidosis type i (phenotype)


Genetic Markers

Most Correlated Genes

Most Correlated SNPs

  1. NEU1
  2. CTSA
  1. No SNPs found
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Pathway Enrichment

Most Correlated Biogroups

  1. APPEL_IMATINIB_RESPONSE
  2. REACTOME_GLYCOSPHINGOLIPID_METABOLISM
  3. REACTOME_SPHINGOLIPID_METABOLISM
  4. GSE10856_CTRL_VS_TNFRSF6B_IN_MACROPHAGE_UP
  5. REACTOME_PHOSPHOLIPID_METABOLISM
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Curated Studies

Most Correlated Studies

  1. OMIM - Congenital disorder
  2. Mouse Phenotypes - Myopathy
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Literature

Most Relevant Literature

  1. Juvenile sialidosis: a rare case and review of the literature.
  2. AAV-mediated gene therapy for sialidosis.
  3. Gene therapy corrects the neurological deficits of mice with sialidosis.
  4. Sialidosis type 1 in a Turkish family: a case report and review of literatures.
  5. AAV-mediated gene therapy for Sialidosis.
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Clinical Trials

Most Relevant Clinical Trials

  1. Biomarker for Mucolipidosis Disorder Type I, II, III, IV (BioML)
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