Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23205
Gene Symbol: ACSBG1
ACSBG1
0.010 Biomarker disease BEFREE The overlapping clinical and pathologic findings suggest that EBV-HLH and SE-LPD are a biologic continuum, rather than discrete entities. 25337215 2014
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.010 Biomarker disease BEFREE <b>Abbreviations</b> ACTB: actin, beta; CTSB: cathepsin B; EEA1: early endosome antigen 1; ESCRT: endosomal sorting complex required for transport; FHL3: familial hemophagocytic; lymphohistiocytosis type 3; HEX: hexosaminidase; HLH: hemophagocytic lymphohistiocytosis; LSD: lysosomal storage disorder; MEF: mouse embryonic fibroblast; SEM: standard errors of the mean; SNARE: soluble n-ethylmaleimide-sensitive-factor attachment receptor; STX: syntaxin; SYT7: synaptotagmin VII; TFE3: transcription factor E3; TFEB: transcription factor EB; TIRF: total internal reflection fluorescence ULK1: unc-51 like kinase 1; UNC13D: unc-13 homolog d; VAMP: vesicle-associate membrane protein; WT: wild-type. 30892133 2019
Entrez Id: 100
Gene Symbol: ADA
ADA
0.010 AlteredExpression disease BEFREE Serum ADA levels of patients with LAHS were significantly higher than benign disease-associated HLH cases (P < 0.05). 25764155 2015
Entrez Id: 213
Gene Symbol: ALB
ALB
0.030 AlteredExpression disease BEFREE Meanwhile, T cell lymphoblastic lymphoma [HR = 0.40, 95%CI (0.20-0.80), P = 0.010], higher white blood cell counts [HR = 0.57, 95%CI (0.34-0.96), P = 0.033], higher serum albumin level [HR = 0.6, 95%CI (0.37-0.97), P = 0.039], and higher ESR [HR = 0.53, 95%CI (0.33-0.87), P = 0.011] were protective factors for OS when stratified by hemophagocytic lymphohistiocytosis (HLH). 30681495 2019
Entrez Id: 213
Gene Symbol: ALB
ALB
0.030 AlteredExpression disease BEFREE In this large series of adults with secondary HLH treated at a single tertiary care center, patients with low serum albumin levels and tumor-associated HLH had a markedly worse survival. 24581757 2014
Entrez Id: 213
Gene Symbol: ALB
ALB
0.030 AlteredExpression disease BEFREE A higher DIC score at diagnosis and lower albumin, HGB, and PLT levels are negative prognostic factors in malignancy-associated HLH. 31783813 2019
Entrez Id: 238
Gene Symbol: ALK
ALK
0.010 Biomarker disease BEFREE To the best of our knowledge, there have been no cases of infant ALCL, ALK-positive, described that have been associated with hemophagocytic syndrome. 19863446 2010
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
0.050 Biomarker disease BEFREE When HPS2 is suspected, detailed immunological tests should be considered, and attention should be paid to HLH and pulmonary lesions immediately and over the long term. 31820501 2020
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
0.050 GeneticVariation disease LHGDN Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. 16551969 2006
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
0.050 Biomarker disease BEFREE While there have been increasing numbers of reported tuberculosis-related HPS (haemophagocytic syndrome), HPS caused by NTM infection is still very rarely reported. 31072325 2019
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
0.050 GeneticVariation disease BEFREE Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis. 25980904 2015
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1
0.050 Biomarker disease BEFREE HPS2 confers a risk for HLH that is lower than in Griscelli or Chediak-Higashi syndrome, probably because of a milder defect in cytotoxicity. 23403622 2013
Entrez Id: 325
Gene Symbol: APCS
APCS
0.040 Biomarker disease BEFREE Here, we show that SAP-deficient CTLs from patients with XLP and hemophagocytic lymphohistiocytosis (HLH) display a specific lytic defect against autologous and allogeneic Epstein-Barr virus (EBV)-positive B cells. 15677558 2005
Entrez Id: 325
Gene Symbol: APCS
APCS
0.040 Biomarker disease BEFREE One XIAP- and three SAP-deficient patients died, while 3/7(42.9%) and 4/13(30.8%), respectively, developed hemophagocytic lymphohistiocytosis (HLH). 31754776 2020
Entrez Id: 325
Gene Symbol: APCS
APCS
0.040 AlteredExpression disease BEFREE Epstein-Barr virus LMP1 inhibits the expression of SAP gene and upregulates Th1 cytokines in the pathogenesis of hemophagocytic syndrome. 16002423 2005
Entrez Id: 325
Gene Symbol: APCS
APCS
0.040 AlteredExpression disease BEFREE Up-regulation of activating transcription factor-5 suppresses SAP expression to activate T cells in hemophagocytic syndrome associated with Epstein-Barr virus infection and immune disorders. 18832568 2008
Entrez Id: 8542
Gene Symbol: APOL1
APOL1
0.010 Biomarker disease BEFREE Haemophagocytic lymphohistiocytosis with collapsing lupus podocytopathy as an unusual manifestation of systemic lupus erythematosus with APOL1 double-risk alleles. 30642866 2019
Entrez Id: 407
Gene Symbol: ARR3
ARR3
0.010 AlteredExpression disease BEFREE The overwhelming release of cytokines and chemokines by activated CAR-T and other secondarily activated immune effector cells can lead to cytokine release syndrome (CRS), which can have clinical and pathophysiology similarities to systemic inflammatory response syndrome and macrophage activating syndrome/hemophagocytic lymphohistiocytosis. 31355491 2019
Entrez Id: 80150
Gene Symbol: ASRGL1
ASRGL1
0.010 GeneticVariation disease BEFREE Patients with B-cell LAHS treated with rituximab (P=0.015) and patients with ENKL treated with L-asparaginase/pegaspargase (L-asp/peg) (P=0.009) had an improved prognosis compared with patients not treated with these drugs. 30061947 2018
Entrez Id: 22809
Gene Symbol: ATF5
ATF5
0.010 AlteredExpression disease BEFREE Up-regulation of activating transcription factor-5 suppresses SAP expression to activate T cells in hemophagocytic syndrome associated with Epstein-Barr virus infection and immune disorders. 18832568 2008
Entrez Id: 22809
Gene Symbol: ATF5
ATF5
0.010 Biomarker disease LHGDN Up-regulation of activating transcription factor-5 suppresses SAP expression to activate T cells in hemophagocytic syndrome associated with Epstein-Barr virus infection and immune disorders. 18832568 2008
Entrez Id: 27087
Gene Symbol: B3GAT1
B3GAT1
0.010 Biomarker disease BEFREE A high proportion of polyclonal CD127<sup>-</sup> CD4<sup>+</sup> T cells expressing HLA-DR, CD57, and perforin is a signature of infants with 1°HLH, much less prominent in virus-associated 2°HLH. 27925643 2017
Entrez Id: 602
Gene Symbol: BCL3
BCL3
0.010 GeneticVariation disease BEFREE Translocation (14;19)(q32;q13) detected by spectral karyotyping and lack of BCL3 rearrangement in CD5-positive B-cell lymphoma associated with hemophagocytic syndrome. 11672772 2001
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.010 GeneticVariation disease BEFREE We report a rare case of HLH attributed to metastatic malignant melanoma treated without corticosteroid and with a nonfatal outcome thanks to specific therapies: etoposide for HLH and a selective inhibitor of mutated forms of BRAF kinase associated with a MEK inhibitor for melanoma. 28471834 2017
Entrez Id: 846
Gene Symbol: CASR
CASR
0.010 AlteredExpression disease BEFREE The overwhelming release of cytokines and chemokines by activated CAR-T and other secondarily activated immune effector cells can lead to cytokine release syndrome (CRS), which can have clinical and pathophysiology similarities to systemic inflammatory response syndrome and macrophage activating syndrome/hemophagocytic lymphohistiocytosis. 31355491 2019