Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.020 Biomarker disease BEFREE Furthermore, a marrow microenvironment, deficient in BPA production and, in some cases, unresponsive to IL-1 could contribute to marrow failure in some patients with AA. 1377699 1992
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.020 Biomarker disease BEFREE Furthermore, HDL supplemented with SAA significantly increased TNF-α release from PBMCs compared with that from control HDL. 28760652 2017
Entrez Id: 8163
Gene Symbol: CDR3
CDR3
0.020 Biomarker disease BEFREE T-cell receptor Vbeta CDR3 oligoclonality frequently occurs in childhood refractory cytopenia (MDS-RC) and severe aplastic anemia. 18323803 2008
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.020 Biomarker disease BEFREE The gene for tumor necrosis factor-alpha (TNF-alpha) is encoded in the MHC locus and TNF-alpha is involved in the pathogenesis of SAA. 12941546 2003
Entrez Id: 7066
Gene Symbol: THPO
THPO
0.020 AlteredExpression disease BEFREE Persistent elevation of plasma thrombopoietin levels after treatment in severe aplastic anemia. 28941711 2018
Entrez Id: 7066
Gene Symbol: THPO
THPO
0.020 Biomarker disease BEFREE In this brief article we report our experience with 2 patients with PRCA after major ABO-incompatible HSCT who were resistant to multiple therapeutic interventions and who eventually benefited from treatment with eltrombopag, a thrombopoietin mimetic approved by the US Food and Drug Administration for the treatment of patients with immune thrombocytopenic purpura or severe aplastic anemia refractory to immunosuppressive agents or not eligible for HSCT. 29684566 2018
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
0.020 Biomarker disease BEFREE In vitro hemopoietic culture studies of marrow from the patient's HLA-MLC-matched siblings showed normal numbers of pluripotential and committed hemopoietic progenitors; in vitro hemopoietic colony formation from the patient was markedly subnormal, consistent with the clinical picture of severe aplastic anemia. 3518419 1986
Entrez Id: 23209
Gene Symbol: MLC1
MLC1
0.020 Biomarker disease BEFREE In this report, we describe a patient with severe aplastic anemia who developed a malignant B cell lymphoplasmacytoid proliferation 48 days after undergoing allogeneic marrow transplantation from her HLA-matched MLC-nonreactive brother. 2820089 1987
Entrez Id: 9437
Gene Symbol: NCR1
NCR1
0.020 AlteredExpression disease BEFREE Therefore, we concluded that the decrease of total NK cells, and CD56(bright), CD56(dim) NK cell subsets and the higher expressions of NKp46 and perforin on NK cells may cause the over-function of T lymphocytes and thus lead to hematopoiesis failure in SAA. 24661133 2014
Entrez Id: 9437
Gene Symbol: NCR1
NCR1
0.020 Biomarker disease BEFREE Activating receptors NKp46 and NKp44 on CD56<sup>bright</sup> NK cells were upregulated while inhibiting receptor NKG2A was downregulated in SAA. 30779419 2019
Entrez Id: 8163
Gene Symbol: CDR3
CDR3
0.020 Biomarker disease BEFREE Next-generation-sequencing-spectratyping reveals public T-cell receptor repertoires in pediatric very severe aplastic anemia and identifies a β chain CDR3 sequence associated with hepatitis-induced pathogenesis. 23716544 2013
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.010 Biomarker disease BEFREE First, we have tested the expression of receptor mRNAs for granulocyte-macrophage colony stimulating factor/interleukin 3 (GM-CSF/IL-3) and for c-kit protein on bone marrow (BM) cells from SAA patients. 7691324 1993
Entrez Id: 8743
Gene Symbol: TNFSF10
TNFSF10
0.010 Biomarker disease BEFREE CD34+ gene expression profiling of individual children with very severe aplastic anemia indicates a pathogenic role of integrin receptors and the proapoptotic death ligand TRAIL. 22315490 2012
Entrez Id: 4049
Gene Symbol: LTA
LTA
0.010 AlteredExpression disease BEFREE The expression of perforin, granzyme B, TNF-β and FasL in CD8+HLA-DR+ T cells was analyzed by flow cytometry and PCR, which revealed increased expression in the untreated SAA group compared with that in the control group. 24969051 2014
Entrez Id: 100528032
Gene Symbol: KLRC4-KLRK1
KLRC4-KLRK1
0.010 Biomarker disease BEFREE In conclusion, NK cells served NKG2D-dependent immunoregulatory roles by attenuating autologous CD8<sup>+</sup> T cell response in SAA. 30471872 2019
Entrez Id: 356
Gene Symbol: FASLG
FASLG
0.010 AlteredExpression disease BEFREE Fas/FasL protein expression of bone marrow hematopoietic cells was investigated in severe aplastic anemia (SAA) patients. 24938700 2014
Entrez Id: 3105
Gene Symbol: HLA-A
HLA-A
0.010 GeneticVariation disease BEFREE We compared and analyzed HLA-A, B, C, DRB1 and DQB1 alleles in 96 Chinese severe AA (SAA) patients to those in 600 healthy people chosen randomly from the China Marrow Donor Program to investigate the association of HLA class I and II allele polymorphisms with disposition of SAA and its severity degree in Chinese population. 24979673 2014
Entrez Id: 100507436
Gene Symbol: MICA
MICA
0.010 AlteredExpression disease BEFREE We also observed upregulated MICA expression on activated CD8<sup>+</sup> T cells, which were susceptible to NK cell mediated lysis in SAA. 30471872 2019
Entrez Id: 23411
Gene Symbol: SIRT1
SIRT1
0.010 AlteredExpression disease BEFREE In conclusion, the defective Sirt1 may be correlated to the abnormal IFNγ expression in SAA patients, and activation of Sirt1 signaling may help improve the inflammatory status of SAA. 31141802 2019
Entrez Id: 2932
Gene Symbol: GSK3B
GSK3B
0.010 AlteredExpression disease BEFREE Western blotting experiments further revealed that SAA significantly increased the expression of p-Akt and p-GSK-3β, and the increase in p-GSK-3β expression was attenuated after inhibition of the Akt signaling pathway with LY294002. 28197936 2019
Entrez Id: 1441
Gene Symbol: CSF3R
CSF3R
0.010 GeneticVariation disease BEFREE Additionally, no G-CSF receptor point mutations could be seen in neutrophils, blood and bone marrow mononuclear cells from patients with cyclic or idiopathic neutropenia, and bone marrow mononuclear cells from patients suffering from severe aplastic anemia. 9368331 1997
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8
0.010 AlteredExpression disease BEFREE A similar trend was also observed for IL-8 levels, where the levels were 41.02±24.23, 11.34±8.0, and 1.67±0.71 for very severe aplastic anemia, severe aplastic anemia, and non-severe aplastic anemia, respectively. 28060106 2017
Entrez Id: 54567
Gene Symbol: DLL4
DLL4
0.010 AlteredExpression disease BEFREE In contrast, A-SAA significantly inhibited DLL-4 mRNA expression (P < 0.05). 24330353 2014
Entrez Id: 6288
Gene Symbol: SAA1
SAA1
0.010 Biomarker disease BEFREE In the candidate chromosomal region, 11p, four loci (probes) were tested, SAA (pSAA82), CALC (pHC36), HBB (Gamma-globin haplotype) and an AC repeat polymorphism at the Wilm's Tumour locus (WT1). 8428754 1993
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.010 Biomarker disease BEFREE First, we have tested the expression of receptor mRNAs for granulocyte-macrophage colony stimulating factor/interleukin 3 (GM-CSF/IL-3) and for c-kit protein on bone marrow (BM) cells from SAA patients. 7691324 1993