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Table 2 Gene Ontology/functional enrichment analysis of up and downregulated DEGs associated with DBA patients. The FDR and p-value cut-off criteria was set > 0.05. The table is enriched with GO biological processes, Molecular Functions and KEGG pathways

From: Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network

Category Term Count p-value False discovery rate
GO-BP:0000122 negative regulation of transcription from RNA polymerase II promoter 44 6.19E-11 1.10E-07
GO-BP:0006935 chemo taxis 14 7.72E-07 0.001365
GO-BP:0006954 inflammatory response 30 3.82E-10 6.77E-07
GO-BP:0006955 immune response 28 6.64E-08 1.17E-04
GO-BP:0008284 positive regulation of cell proliferation 28 5.10E-07 9.02E-04
GO-BP:0008285 negative regulation of cell proliferation 25 1.01E-06 0.001791
GO-BP:0009612 response to mechanical stimulus 10 1.97E-06 0.003493
GO-BP:0030335 positive regulation of cell migration 16 3.39E-06 0.005999
GO-BP:0032496 response to lipopolysaccharide 18 2.31E-08 4.10E-05
GO-BP:0034097 response to cytokine 10 6.52E-07 0.001153
GO-BP:0042127 regulation of cell proliferation 15 1.68E-05 0.029732
GO-BP:0042517 positive regulation of tyrosine phosphorylation of Stat3 protein 9 5.71E-07 0.001010
GO-BP:0043410 positive regulation of MAPK cascade 11 3.88E-06 0.006861
GO-BP:0045944 positive regulation of transcription from RNA polymerase II promoter 45 2.14E-07 3.78E-04
GO-BP:0048661 positive regulation of smooth muscle cell proliferation 12 1.95E-08 3.45E-05
GO-BP:0070098 chemokine-mediated signaling pathway 10 9.53E-06 0.016859
GO-BP:0071222 cellular response to lipopolysaccharide 13 2.14E-06 0.003778
GO-BP:0071356 cellular response to tumor necrosis factor 14 2.30E-07 4.07E-04
GO-BP:0071456 cellular response to hypoxia 11 1.80E-05 0.031815
GO-BP:0006564 L-Serine biosynthetic Process 4 1.35E-06 0.002131
GO-BP:0008652 Cellular amino acid biosynthetic process 5 3.07E-05 0.048645
GO-CC:0005576 extracellular region 60 1.27E-07 1.71E-04
GO-CC:0005615 extracellular space 61 6.12E-11 8.24E-08
GO-CC:0048471 perinuclear region of cytoplasm 30 3.33E-06 0.004483
GO-MF:0005515 protein binding 209 1.90E-07 2.80E-04
GO-MF:0005102 receptor binding 24 2.07E-07 3.05E-04
GO-MF:0008009 chemokine activity 9 3.05E-06 0.004492
KEGG_Pathway TNF signaling pathway 22 7.91E-13 1.01E-09
KEGG_Pathway Osteoclast differentiation 16 3.16E-06 0.004022
KEGG_Pathway Chemokine signaling pathway 18 1.52E-05 0.019366
KEGG_Pathway Cytokine-cytokine receptor interaction 20 2.02E-05 0.025631
KEGG_Pathway Rheumatoid arthritis 12 2.97E-05 0.037766
KEGG_Pathway Biosynthesis of amino acids 9 3.22E-07 0.000387
KEGG_Pathway Biosynthesis of antibiotics 12 3.11E-06 0.003751
KEGG_Pathway Glycine, serine and threonine metabolism 6 2.62E-05 0.031616