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QuickView for mucolipidosis type iv (phenotype)


Genetic Markers

Most Correlated Genes

Most Correlated SNPs

  1. MCOLN1
  1. No SNPs found
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Pathway Enrichment

Most Correlated Biogroups

  1. intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity
  2. Mucolipin
  3. NAADP-sensitive calcium-release channel activity
  4. Polycystin cation channel, PKD1/PKD2
  5. autophagosome maturation
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Curated Studies

Most Correlated Studies

  1. Mouse Phenotypes - Dysostosis multiplex group
  2. OMIM - Congenital disorder
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Literature

Most Relevant Literature

  1. Multimodal Imaging in Mucolipidosis Type IV: Siblings With Novel Genetic Variant.
  2. TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IV.
  3. Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV.
  4. The Dictyostelium Model for Mucolipidosis Type IV.
  5. Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.
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Clinical Trials

Most Relevant Clinical Trials

  1. The Natural History and Pathogenesis of Mucolipidosis Type IV
  2. The Natural History of Mucolipidosis Type IV
  3. Mucolipidosis Type IV Natural History Study
  4. Biomarker for Mucolipidosis Disorder Type I, II, III, IV (BioML)
  5. A Comparison of Two Freezing Techniques
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