Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3558
Gene Symbol: IL2
IL2
0.020 Biomarker disease BEFREE Interleukin-2 (alias: IL-2, TCGF, Lymphokine), a type of interleukin, is also a potent signalling molecule in the signalling cascade of the immune-mediated activation of T Lymphocytes leading to the destruction of haematopoietic stem cell (HSC) which is the basis of acquired aplastic anaemia (AAA). 30139310 2019
Entrez Id: 9474
Gene Symbol: ATG5
ATG5
0.010 GeneticVariation disease BEFREE Our results indicate that genetic ATG5 variants contributed to AA, which may facilitate further clarifying the underlying mechanisms of AA and making a patient-tailored medical decision. 30767262 2019
Entrez Id: 3606
Gene Symbol: IL18
IL18
0.010 Biomarker disease BEFREE In summary, our findings suggest that, although increased circulating IL-18 is a feature of SAA, it may reflect an aberrant immune response but be dispensable to the pathogenesis of AA. 30316805 2019
Entrez Id: 6279
Gene Symbol: S100A8
S100A8
0.010 AlteredExpression disease BEFREE Circulating S100A8 and S100A9 protein levels in plasma of patients with acquired aplastic anemia and myelodysplastic syndromes. 29958797 2019
Entrez Id: 6280
Gene Symbol: S100A9
S100A9
0.010 AlteredExpression disease BEFREE Circulating S100A8 and S100A9 protein levels in plasma of patients with acquired aplastic anemia and myelodysplastic syndromes. 29958797 2019
Entrez Id: 1440
Gene Symbol: CSF3
CSF3
0.030 Biomarker disease BEFREE G-CSF for patients with AA is not associated with a higher occurrence of secondary malignant neoplasm, mainly MDS/AML, or PNH. 30253387 2018
Entrez Id: 1440
Gene Symbol: CSF3
CSF3
0.030 AlteredExpression disease BEFREE We have investigated the expression of RNA transcripts of hematopoiesis regulatory molecules, viz., macrophage inflammatory protein (MIP)-1<i>α</i>, tumor necrosis factor (TNF)-<i>α</i>, granulocyte colony-stimulating factor (G-CSF), stromal cell-derived factor (SDF)-1<i>α</i>, stem cell factor (SCF), and transforming growth factor (TGF)-<i>β</i> in lipopolysaccharide-induced bone marrow mesenchymal stem cells (BM-MSCs) and levels of their soluble forms in the culture supernatants of BM-MSCs and BM plasma of patients with acquired aplastic anemia (AA) (<i>n</i> = 29) and controls (<i>n</i> = 29). 30416525 2018
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.020 AlteredExpression disease BEFREE We have investigated the expression of RNA transcripts of hematopoiesis regulatory molecules, viz., macrophage inflammatory protein (MIP)-1<i>α</i>, tumor necrosis factor (TNF)-<i>α</i>, granulocyte colony-stimulating factor (G-CSF), stromal cell-derived factor (SDF)-1<i>α</i>, stem cell factor (SCF), and transforming growth factor (TGF)-<i>β</i> in lipopolysaccharide-induced bone marrow mesenchymal stem cells (BM-MSCs) and levels of their soluble forms in the culture supernatants of BM-MSCs and BM plasma of patients with acquired aplastic anemia (AA) (<i>n</i> = 29) and controls (<i>n</i> = 29). 30416525 2018
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
0.010 Biomarker disease BEFREE However, expression of SMARCA4, SMARCB1, SMARCD3, and DPF2 remained intact in our AA cohort. 29596882 2018
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A
0.010 Biomarker disease BEFREE Herein, gene expression analysis identified a significant loss of the SWI/SNF core component SMARCC1, along with ARID1B, ACTL6A, and SMARCD1, in human AA BM CD34<sup>+</sup> HSCs and hematopoietic stem and progenitor cells (HSPCs) compared with normal HSPCs. 29596882 2018
Entrez Id: 8163
Gene Symbol: CDR3
CDR3
0.010 Biomarker disease BEFREE Deep sequencing and flow cytometric characterization of expanded effector memory CD8<sup>+</sup>CD57<sup>+</sup> T cells frequently reveals T-cell receptor Vβ oligoclonality and CDR3 homology in acquired aplastic anemia. 29419434 2018
Entrez Id: 6599
Gene Symbol: SMARCC1
SMARCC1
0.010 Biomarker disease BEFREE Herein, gene expression analysis identified a significant loss of the SWI/SNF core component SMARCC1, along with ARID1B, ACTL6A, and SMARCD1, in human AA BM CD34<sup>+</sup> HSCs and hematopoietic stem and progenitor cells (HSPCs) compared with normal HSPCs. 29596882 2018
Entrez Id: 6602
Gene Symbol: SMARCD1
SMARCD1
0.010 Biomarker disease BEFREE Herein, gene expression analysis identified a significant loss of the SWI/SNF core component SMARCC1, along with ARID1B, ACTL6A, and SMARCD1, in human AA BM CD34<sup>+</sup> HSCs and hematopoietic stem and progenitor cells (HSPCs) compared with normal HSPCs. 29596882 2018
Entrez Id: 6594
Gene Symbol: SMARCA1
SMARCA1
0.010 AlteredExpression disease BEFREE Apart from SMARCD1 loss, we did not observe significant alteration of SWI/SNF expression in MDS HSPCs, indicating SWI/SNF differential expression in AA and MDS. 29596882 2018
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
0.030 GeneticVariation disease BEFREE The markedly high prevalence of leukocytes lacking HLA-B4002 as a result of either 6pLOH or structural gene mutations, or both, suggests that antigen presentation by hematopoietic stem/progenitor cells to cytotoxic T cells via the HLA-B allele plays a critical role in the pathogenesis of AA. 28232583 2017
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
0.030 GeneticVariation disease BEFREE Novel deletion mutation of HLA-B*40:02 gene in acquired aplastic anemia. 28025876 2017
Entrez Id: 3605
Gene Symbol: IL17A
IL17A
0.020 Biomarker disease BEFREE We investigated CXCR4 expressions on circulating T-cell subsets, plasma IL-17A concentrations, and their correlations with AA manifestations. 28831064 2017
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.020 Biomarker disease BEFREE This initial analysis provides valuable clues for further study of TGF-β1 pathway genes in acquired AA. 27933374 2017
Entrez Id: 3558
Gene Symbol: IL2
IL2
0.020 Biomarker disease BEFREE Interleukin-2 and Interleukin-8 Gene Polymorphisms and Acquired Aplastic Anemia Risk in a Chinese Population. 28268223 2017
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
0.020 AlteredExpression disease BEFREE Aberrant CXCR4 expression may allow circulating T-cells, especially CD8<sup>+</sup> T-cells, to infiltrate BM during AA progression. 28831064 2017
Entrez Id: 6289
Gene Symbol: SAA2
SAA2
0.010 GeneticVariation disease BEFREE We enrolled 71 patients with acquired AA (36 severe AA cases [SAA] and 35 non-severe AA cases [NSAA]) and 42 healthy volunteers. 28831064 2017
Entrez Id: 407040
Gene Symbol: MIR34A
MIR34A
0.010 Biomarker disease BEFREE Dysregulated miR34a/diacylglycerol kinase ζ interaction enhances T-cell activation in acquired aplastic anemia. 28008152 2017
Entrez Id: 3627
Gene Symbol: CXCL10
CXCL10
0.010 Biomarker disease BEFREE Pro-inflammatory effects of the Th1 chemokine CXCL10 in acquired aplastic anaemia. 28411045 2017
Entrez Id: 7412
Gene Symbol: VCAM1
VCAM1
0.010 Biomarker disease BEFREE These results revealed the effect of CD106 and NF-κB in BM failure of AA. 28764810 2017
Entrez Id: 6288
Gene Symbol: SAA1
SAA1
0.010 GeneticVariation disease BEFREE We enrolled 71 patients with acquired AA (36 severe AA cases [SAA] and 35 non-severe AA cases [NSAA]) and 42 healthy volunteers. 28831064 2017