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QuickView for familial amyloid polyneuropathy (phenotype)


Genetic Markers

Most Correlated Genes

Most Correlated SNPs

  1. TTR
  2. TGFBI
  1. No SNPs found
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Pathway Enrichment

Most Correlated Biogroups

  1. REACTOME_AMYLOIDS
  2. LEIN_CHOROID_PLEXUS_MARKERS
  3. GSE43955_TH0_VS_TGFB_IL6_TH17_ACT_CD4_TCELL_60H_DN
  4. Transthyretin, thyroxine binding site
  5. Transthyretin, conserved site
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Curated Studies

Most Correlated Studies

  1. OMIM - Neuropathy
  2. OMIM - Corneal disorder
  3. OMIM - Metabolic disease
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Literature

Most Relevant Literature

  1. Recent advances in the treatment of familial amyloid polyneuropathy.
  2. Regional differences and similarities of FAP in Sweden.
  3. Neurophysiological markers of small fibre neuropathy in TTR-FAP mutation carriers.
  4. Operative risks of domino liver transplantation for the FAP liver donor and the FAP liver recipient.
  5. Clinical features of TTR-FAP in Portugal.
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Clinical Trials

Most Relevant Clinical Trials

  1. Efficacy and Safety of Inotersen in Familial Amyloid Polyneuropathy
  2. Study of SOM0226 in Familial Amyloid Polyneuropathy
  3. Open-Label Extension Assessing Long Term Safety and Efficacy of IONIS-TTR Rx in Familial Amyloid Pol…
  4. Biomarker for Transthyretin-Related Familial Amyloidotic Polyneuropathy (BioTRAP)
  5. Screening for the Transthyretin-Related Familial Amyloidotic Polyneuropathy (TTR FAP)
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