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Diamond-Blackfan anaemia
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
RPL18
RPS24
HEATR3
TSR2
RPS28
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
GNF2_EIF3S6
REACTOME_INFLUENZA_VIRAL_RNA_TRANSCRIPTION_AND_REPLICATION
REACTOME_TRANSLATION
REACTOME_PEPTIDE_CHAIN_ELONGATION
REACTOME_3_UTR_MEDIATED_TRANSLATIONAL_REGULATION
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Curated Studies
Most Correlated Studies
Gene expression profiles in Diamond-Blackfan anemia patients.
Erythroid progenitors from bone marrows of Diamond-Blackfan anemia patients
Erythroblasts from mice expressing in Diamond-Blackfan Anemia RPS19[R62W] mutation
OMIM - Anemia disorders
Lymphoblastoid cells from blood of diamond blackfan anemia disease subjects
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Literature
Most Relevant Literature
Normal Erythroid Precursors in Diamond-Blackfan Anemia: A Rare Case Highlighting Challenges That Rem…
Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia.
Treatment of refractory/relapsed Diamond-Blackfan anaemia with eltrombopag.
Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease.
Diamond-Blackfan anemia.
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Clinical Trials
Most Relevant Clinical Trials
Diamond Blackfan Anemia Registry (DBAR)
Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Trans…
An Epidemiological Study to Assess Iron Overload Using MRI in Patients With Transfusional Siderosis …
Identification of New Immune Factors Specific of Relapse in Childhood B Lineage Acute Lymphoblastic …
Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic …
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