Diamond-Blackfan Anemia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis insufficient levels of red blood cells due to bone marrow dysfunction. (Human Disease Ontology, DOID_1339)
External Link https://www.disgenet.org/browser/0/1/0/C2675511
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Genes

23 genes associated with the disease Diamond-Blackfan Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADA2 adenosine deaminase 2
EPO erythropoietin
FAM69A family with sequence similarity 69, member A
GABARAPL1 GABA(A) receptor-associated protein like 1
GABARAPL2 GABA(A) receptor-associated protein-like 2
IQCG IQ motif containing G
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL27 ribosomal protein L27
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
RPS10-NUDT3 RPS10-NUDT3 readthrough
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS26 ribosomal protein S26
RPS27 ribosomal protein S27
RPS28 ribosomal protein S28
RPS29 ribosomal protein S29
RPS7 ribosomal protein S7
TP53 tumor protein p53
TSR2 TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)