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QuickView for Diamond-Blackfan anemia (phenotype)


Genetic Markers

Most Correlated Genes

Most Correlated SNPs

  1. RPS24
  2. TSR2
  3. RPS28
  4. NR4A3
  5. CMTM7
  1. No SNPs found
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Pathway Enrichment

Most Correlated Biogroups

  1. GNF2_EIF3S6
  2. REACTOME_INFLUENZA_VIRAL_RNA_TRANSCRIPTION_AND_REPLICATION
  3. REACTOME_3_UTR_MEDIATED_TRANSLATIONAL_REGULATION
  4. REACTOME_TRANSLATION
  5. REACTOME_SRP_DEPENDENT_COTRANSLATIONAL_PROTEIN_TARGETING_TO_MEMBRANE
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Curated Studies

Most Correlated Studies

  1. OMIM - Congenital disorder
  2. Gene expression profiles in Diamond-Blackfan anemia patients.
  3. Erythroid progenitors from bone marrows of Diamond-Blackfan anemia patients
  4. Dermal fibroblasts from Diamond-Blackfan anemia patients
  5. Erythroblasts from mice expressing in Diamond-Blackfan Anemia RPS19[R62W] mutation
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Literature

Most Relevant Literature

  1. Diamond-Blackfan anemia.
  2. Diamond-Blackfan anemia.
  3. Challenges in the management of pregnancy complicated by maternal Diamond Blackfan Anaemia: A case r…
  4. GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset o…
  5. Pearson syndrome in a child transplanted for Diamond-Blackfan anemia.
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Clinical Trials

Most Relevant Clinical Trials

  1. L-leucine in Diamond Blackfan Anemia Patients
  2. Diamond Blackfan Anemia Registry (DBAR)
  3. Treatment of Refractory Diamond-Blackfan Anemia With Eltrombopag
  4. Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia
  5. Medical Treatment for Diamond Blackfan Anemia
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