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(e.g. rs2476601, PDX1, Fatty acid metabolic process, Pseudomonas infection, Liver)
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QuickView for spinal muscular atrophy (phenotype)


Genetic Markers

Most Correlated Genes

Most Correlated SNPs

  1. AR
  2. SMAR
  3. PLEKHG5
  4. IGHMBP2
  5. DCTN1
  1. No SNPs found
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Pathway Enrichment

Most Correlated Biogroups

  1. cytosol
  2. GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN
  3. NUYTTEN_EZH2_TARGETS_UP
  4. endoplasmic reticulum
  5. DIAZ_CHRONIC_MEYLOGENOUS_LEUKEMIA_UP
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Curated Studies

Most Correlated Studies

  1. Study of animal Model of SMARD1
  2. Mouse Phenotypes - Lower motor neuron disease
  3. OMIM - Spinal muscular atrophy
  4. NSC-transplanted motorneurons in Spinal Muscular Atrophy (SMA) in mice
  5. OMIM - Spinal muscular atrophy disorders
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Literature

Most Relevant Literature

  1. Spinal muscular atrophy: going beyond the motor neuron.
  2. VPA response in SMA is suppressed by the fatty acid translocase CD36.
  3. Decreased stathmin expression ameliorates neuromuscular defects but fails to prolong survival in a m…
  4. Spinal muscular atrophy: manifestations and management.
  5. Therapeutic strategies for the treatment of spinal muscular atrophy.
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Clinical Trials

Most Relevant Clinical Trials

  1. Newborn Screening for Spinal Muscular Atrophy
  2. Clinical Study of Spinal Muscular Atrophy
  3. Myotonometer Intra- and Inter Examiner Reliability on Spinal Muscular Atrophy
  4. Newborn Screening for Spinal Muscular Atrophy
  5. The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs
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