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Diamond-Blackfan anemia
(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
Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease.
Diamond-Blackfan anemia.
Utility of Whole Exome Sequencing in the Early Diagnosis of Atypical Diamond-Blackfan Anemia.
Diamond-Blackfan anemia.
Diamond-Blackfan anaemia with iron overload: A serious issue.
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Clinical Trials
Most Relevant Clinical Trials
L-leucine in Diamond Blackfan Anemia Patients
Diamond Blackfan Anemia Registry (DBAR)
Treatment of Refractory Diamond-Blackfan Anemia With Eltrombopag
Rituximab to Treat Moderate Aplastic Anemia, Pure Red Cell Aplasia, or Diamond Blackfan Anemia
Study of the Selective GlyT1 Inhibitor Bitopertin for Steroid-Refractory Diamond-Blackfan Anemia
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