Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
0.010 GeneticVariation disease BEFREE The most common diagnoses were syndromic craniosynostosis in 8/35 children (22.9%), among which sevenare FGFR-related and one ERF-related craniosynostosis; disorders of the RAS/MAPK pathway, termed RASopathies or RAS/MAPK syndromes in 9/35 (25.7%); disorders of the PTEN-PI3K/AKT signal transduction cascade, termed PTENopathies in 3/35 children (8.6%); and chromosomal rearrangements in 6/35 patients (17.1%), two of whom with del16p11.2. 31363831 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR
0.010 AlteredExpression disease BEFREE Objectives of this study were to assess the relationships between the total concentration of vitamin D (25VD3) in sera, vitamin D receptor (VDR) expression, 1α-hydroxylase expression, and clinical data, including age, gender, Sino-Nasal Outcome Test (SNOT-22), computerized tomography (CT) scan, allergy status, and vitamin D supplementation in CRS patients with (CRSwNP) and without nasal polyps (CRSsNP), and in a control group. 30388935 2019
Entrez Id: 3604
Gene Symbol: TNFRSF9
TNFRSF9
0.010 Biomarker disease BEFREE Here, we report on the low incidence of severe cytokine release syndrome (CRS) in a subject treated with a CAR T-cell product composed of a defined ratio CD4:CD8 T-cell composition with a 4-1BB:zeta CAR targeting CD19 who also recieved early intervention treatment. 31697826 2019
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
0.010 GeneticVariation disease BEFREE The most common diagnoses were syndromic craniosynostosis in 8/35 children (22.9%), among which sevenare FGFR-related and one ERF-related craniosynostosis; disorders of the RAS/MAPK pathway, termed RASopathies or RAS/MAPK syndromes in 9/35 (25.7%); disorders of the PTEN-PI3K/AKT signal transduction cascade, termed PTENopathies in 3/35 children (8.6%); and chromosomal rearrangements in 6/35 patients (17.1%), two of whom with del16p11.2. 31363831 2019
Entrez Id: 1490
Gene Symbol: CCN2
CCN2
0.010 Biomarker disease BEFREE Meanwhile, the CTGF-LRP pathway might be one of the therapeutic targets for myocardial infarction caused type 2 CRS which showed a positive change after BXYS treatment and is worthy of further exploration. 31708787 2019
Entrez Id: 383
Gene Symbol: ARG1
ARG1
0.010 AlteredExpression disease BEFREE Thus, the present study investigates the activity of arginase I (ARG1) and II (ARG2) in CRS and its possible involvement in the pathogenesis of this disease. 31683763 2019
Entrez Id: 100616376
Gene Symbol: MIR4492
MIR4492
0.010 Biomarker disease BEFREE The expression of miR-4492 and that if its targets predicted by a bioinformatics analysis, tumor necrosis factor α (TNF-α) and interleukin (IL)-10, was validated in 96 clinical specimens. miR-4492 was downregulated and IL-10 was upregulated in CRSwNP vs. CRSsNP tissues, and an inverse correlation between miR-4492 and IL-10 was determined in CRS tissues; however no difference was identified in the expression of TNF-α between the different groups. 31611936 2019
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
0.010 GeneticVariation disease BEFREE This finding provides strong evidence that the BCL11B p.R3S substitution is causally associated with craniosynostosis and confirms an important role for BCL11B in the maintenance of cranial suture patency. 31067316 2019
Entrez Id: 3600
Gene Symbol: IL15
IL15
0.010 Biomarker disease BEFREE These novel trials testing the use of IL-15 to potentiate cell therapy suggest that dosing schedules based on pharmacokinetics and pharmacodynamics will preserve the therapeutic benefits of IL-15 and minimize CRS. 31266741 2019
Entrez Id: 947
Gene Symbol: CD34
CD34
0.010 Biomarker disease BEFREE To determine if bone marrow-thymus-liver (BLT) humanized mice with a fully engrafted human immune system or a CD34-humanized mouse model could predict CRS, we tested an anti-CD28 monoclonal antibody (mAb) similar to TGN1412. 30914376 2019
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
0.010 AlteredExpression disease BEFREE Patients with CRS showed significant increases in the expression of ctla4 and jak1 in sinonasal tissue and blood (p < 0.05), whereas the gene expression of hla-dqa1, hla-dqb1, and dusp4 was significantly decreased in patients with CRS compared to controls (p < 0.05). 30657646 2019
Entrez Id: 384
Gene Symbol: ARG2
ARG2
0.010 AlteredExpression disease BEFREE Increased ARG2 expression was found in patients with CRS without nasal polyposis (FR 3.14 ± 1.16 vs. 1.31 ± 0.21, <i>p</i> = 0.0175), in non-allergic CRS (FR 2.55 ± 0.52 vs. 1.31 ± 0.21, <i>p</i> = 0.005), and non-asthmatic CRS (FR 2.42 ± 0.57 vs. 1.31 ± 0.21, <i>p</i> = 0.028). 31683763 2019
Entrez Id: 3570
Gene Symbol: IL6R
IL6R
0.010 Biomarker disease BEFREE In addition, the use of the interleukin-6 receptor antibody tocilizumab for CRS is reviewed. 31219357 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.010 GeneticVariation disease BEFREE The most common diagnoses were syndromic craniosynostosis in 8/35 children (22.9%), among which sevenare FGFR-related and one ERF-related craniosynostosis; disorders of the RAS/MAPK pathway, termed RASopathies or RAS/MAPK syndromes in 9/35 (25.7%); disorders of the PTEN-PI3K/AKT signal transduction cascade, termed PTENopathies in 3/35 children (8.6%); and chromosomal rearrangements in 6/35 patients (17.1%), two of whom with del16p11.2. 31363831 2019
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.010 GeneticVariation disease BEFREE The most common diagnoses were syndromic craniosynostosis in 8/35 children (22.9%), among which sevenare FGFR-related and one ERF-related craniosynostosis; disorders of the RAS/MAPK pathway, termed RASopathies or RAS/MAPK syndromes in 9/35 (25.7%); disorders of the PTEN-PI3K/AKT signal transduction cascade, termed PTENopathies in 3/35 children (8.6%); and chromosomal rearrangements in 6/35 patients (17.1%), two of whom with del16p11.2. 31363831 2019
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
0.010 Biomarker disease BEFREE Herein, we introduce a novel surface-enhanced Raman scattering (SERS)-based sandwich immunoassay platform to simultaneously detect cardiac troponin I (cTnI), N-terminal prohormone of brain natriuretic peptide (NT-ProBNP), and neutrophil gelatinase-associated lipocalin (NGAL) for the early diagnosis of CRS by using Raman reporter-molecule-labeled Ag-Au nanostars (Ag-Au NSs) as nanotags and a three-dimensional ordered macroporous (3DOM) Au-Ag-Au plasmonic array as substrate. 30499654 2019
Entrez Id: 6678
Gene Symbol: SPARC
SPARC
0.010 Biomarker disease BEFREE We wished to determine if SPARC could represent a serum biomarker for CRS by verifying (1) if SPARC could be detected in serum, (2) whether levels were sensitive to disease burden reduction following surgery, and (3) if it could predict response to therapy. 30274534 2019
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1
0.010 Biomarker disease BEFREE HSP47 is increased in patients with CRS without nasal polyps. 31664133 2019
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.010 Biomarker disease BEFREE Several genes/molecules, such as SPINK5, S100A7, S100A8/9, PCDH1, NDRG1, SPRR, and p63 are involved in modulating the physical barrier function in the context of CRS. 30925220 2019
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
0.010 GeneticVariation disease BEFREE The present report provides clinical data regarding the first association of a RAF1 variant and craniosynostosis in a patient with clinical diagnosis of NSML. 31145547 2019
Entrez Id: 3934
Gene Symbol: LCN2
LCN2
0.010 Biomarker disease BEFREE Herein, we introduce a novel surface-enhanced Raman scattering (SERS)-based sandwich immunoassay platform to simultaneously detect cardiac troponin I (cTnI), N-terminal prohormone of brain natriuretic peptide (NT-ProBNP), and neutrophil gelatinase-associated lipocalin (NGAL) for the early diagnosis of CRS by using Raman reporter-molecule-labeled Ag-Au nanostars (Ag-Au NSs) as nanotags and a three-dimensional ordered macroporous (3DOM) Au-Ag-Au plasmonic array as substrate. 30499654 2019
Entrez Id: 246
Gene Symbol: ALOX15
ALOX15
0.010 GeneticVariation disease BEFREE Most notably, a missense variant in ALOX15 that causes a p.Thr560Met alteration in arachidonate 15-lipoxygenase (15-LO) confers large genome-wide significant protection against NP (P = 8.0 × 10<sup>-27</sup>, odds ratio = 0.32; 95% confidence interval = 0.26, 0.39) and CRS (P = 1.1 × 10<sup>-8</sup>, odds ratio = 0.64; 95% confidence interval = 0.55, 0.75). p.Thr560Met, carried by around 1 in 20 Europeans, was previously shown to cause near total loss of 15-LO enzymatic activity. 30643255 2019
Entrez Id: 608
Gene Symbol: TNFRSF17
TNFRSF17
0.010 Biomarker disease BEFREE The abundance of BCMA and cytogenetic marker del(17p) and the elevation of IL-6 were the key indicators for severe CRS. 30988175 2019
Entrez Id: 2784
Gene Symbol: GNB3
GNB3
0.010 GeneticVariation disease BEFREE Unique to our study is the establishment of an association between CRS in this patient population and GNB3 SNP rs5443, a variation in an established G protein component downstream of bitterant receptor signal transduction. 31137020 2019
Entrez Id: 7098
Gene Symbol: TLR3
TLR3
0.010 Biomarker disease BEFREE we investigated the presence of virus and the expression of Toll-like receptor (TLR) 3, TLR7, and interferon and interferon-stimulated genes (ISGs) in healthy mucosal tissue of control subjects and the inflammatory sinus mucosal tissue of CRS patients, and evaluated whether levels of interferons and ISGs might be affected by CRS-related cytokines and by treatment with macrolides, dexamethasone, or TLR3 and TLR7 agonists. 31449915 2019