Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5019
Gene Symbol: OXCT1
OXCT1
0.010 Biomarker disease BEFREE In the randomised scleroderma: Cyclophosphamide Or Transplantation (SCOT trial) (NCT00114530), myeloablation, followed by haematopoietic stem cell transplantation (HSCT), led to improved clinical outcomes compared with monthly cyclophosphamide (CYC) treatment in systemic sclerosis (SSc). 31391177 2019
Entrez Id: 56616
Gene Symbol: DIABLO
DIABLO
0.010 Biomarker disease BEFREE The mRNA of Smac the content of Smac in cytoplasm the Smac protein in the pSS patients increased significantly compared with the healthy controls(p < 0.05). 31305346 2019
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
0.010 AlteredExpression disease BEFREE While no difference was recorded at the basal level between HC and SSc dermal Fb, the expression of OTUD6B-AS1 and OTUD6B was significantly downregulated in both SSc and HC dermal Fb after PDGF stimulation in a time-dependent manner. 31156645 2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
0.010 Biomarker disease BEFREE Bufei Qingyu Granules Inhibit the Development of Systemic Sclerosis via Notch-1/Jagged-2 Signaling Pathway. 31354856 2019
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.010 Biomarker disease BEFREE Detection of myocardial inflammation by 18F-FDG-PET/CT in patients with systemic sclerosis without cardiac symptoms: a pilot study. 30557130 2019
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
0.010 Biomarker disease BEFREE Weekly subcutaneous injections of PGN-NP attenuated skin fibrosis in BLM-induced scleroderma model mice. 30655107 2019
Entrez Id: 57760
Gene Symbol: SPG16
SPG16
0.010 Biomarker disease BEFREE Facile fabrication of PEG-coated PLGA microspheres via SPG membrane emulsification for the treatment of scleroderma by ECM degrading enzymes. 31005740 2019
Entrez Id: 10557
Gene Symbol: RPP38
RPP38
0.010 Biomarker disease BEFREE Autoantibodies to a novel Rpp38 (Th/To) derived B-cell epitope are specific for systemic sclerosis and associate with a distinct clinical phenotype. 31323671 2019
Entrez Id: 8795
Gene Symbol: TNFRSF10B
TNFRSF10B
0.010 Biomarker disease BEFREE Targeting of dermal myofibroblasts through death receptor 5 arrests fibrosis in mouse models of scleroderma. 30850660 2019
Entrez Id: 3693
Gene Symbol: ITGB5
ITGB5
0.010 Biomarker disease BEFREE In HD MDM, the extinction of these receptors was followed by a reduction of efferocytosis only for the repression of ITGβ5, suggesting a possible selective role of this integrin in the impaired efferocytosis observed in SSc. 30426551 2019
Entrez Id: 84171
Gene Symbol: LOXL4
LOXL4
0.010 Biomarker disease BEFREE The goal of this study was to use hSE and SAS to investigate cutaneous fibrosis and the role of LOXL4 in SSc pathogenesis. 31705627 2019
Entrez Id: 6006
Gene Symbol: RHCE
RHCE
0.010 Biomarker disease BEFREE RHC was performed only in SSc patients with clinical indications. 29322374 2018
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
0.010 Biomarker disease BEFREE The prevalence of RF and a-CCP antibodies is relatively high in SSc, and joint involvement occurs frequently. 30024658 2018
Entrez Id: 23308
Gene Symbol: ICOSLG
ICOSLG
0.010 GeneticVariation disease BEFREE The aim of the present study was to investigate the association of the FOXP3 rs2294020, ICOS rs6726035 and ICOSL rs378299 SNPs with both the susceptibility and the progression to SSc in an Italian case-series of patients. 29030005 2018
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
0.010 AlteredExpression disease BEFREE Selexipag and mainly its active metabolite ACT-333679 were found for the first time to potentially interfere with the profibrotic activity of cultured SSc fibroblasts/myofibroblasts at least in vitro, possibly through the downregulation of fibrogenic Erk1/2 and Akt signaling molecules. 29720235 2018
Entrez Id: 1020
Gene Symbol: CDK5
CDK5
0.010 AlteredExpression disease BEFREE The results suggest a potential pathogenic role for elevated p35 expression and CDK5 activity in SSc, and raise the possibility that their selective pharmacological targeting might represent a novel treatment approach in fibrosis. 29535807 2018
Entrez Id: 8890
Gene Symbol: EIF2B4
EIF2B4
0.010 Biomarker disease BEFREE ANA-negative sera from the Scleroderma Family Registry and DNA Repository underwent indirect immunofluorescence, radiolabelled protein immunoprecipitation (± immunodepletion) to identify anti-eIF2B and other CTD-related autoantibodies. 29294089 2018
Entrez Id: 912
Gene Symbol: CD1D
CD1D
0.010 Biomarker disease BEFREE Importantly, Vδ1<sup>+</sup> T cells in both SSc and HC were highly reactive with lipid presenting CD1d tetramers, and a CD1d-blocking mAb decreased CL-induced enhancement of %SSc CD25<sup>+</sup> Vδ1<sup>+</sup> T cells in the presence of zol. 29706966 2018
Entrez Id: 187
Gene Symbol: APLNR
APLNR
0.010 Biomarker disease BEFREE HSPG2 and APLNR were identified as two of the top markers of EC injury in SSc. 30327649 2018
Entrez Id: 84790
Gene Symbol: TUBA1C
TUBA1C
0.010 AlteredExpression disease BEFREE Anti-tubulin-α-1C autoantibody levels were determined by enzyme-linked immunosorbent assay (ELISA) in 128 SLE patients, 38 primary Sjögren's syndrome (pSS) patients, and 106 healthy controls (HCs).White blood cell (WBC) count, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), IgM, IgG, C3, C4, RF, ANA, dsDNA, Sm, AnuA, aCL, anti-SSA, and anti-SSB were measured by standard laboratory techniques. 29427009 2018
Entrez Id: 29110
Gene Symbol: TBK1
TBK1
0.010 Biomarker disease BEFREE The objective of this study was to explore the potential of BX795, an inhibitor of TBK1, to downregulate IFN-I activation in pSS, SLE and SSc. 29673738 2018
Entrez Id: 7356
Gene Symbol: SCGB1A1
SCGB1A1
0.010 Biomarker disease BEFREE We prospectively analyzed and followed 106 patients with SSc during a 4-year period for the risk of developing combined deleterious event, defined as a 10% decrease in total lung capacity or forced vital capacity from baseline, or death, according to serum CC16 at inclusion. 29142028 2018
Entrez Id: 9457
Gene Symbol: FHL5
FHL5
0.010 AlteredExpression disease BEFREE Selexipag and mainly its active metabolite ACT-333679 were found for the first time to potentially interfere with the profibrotic activity of cultured SSc fibroblasts/myofibroblasts at least in vitro, possibly through the downregulation of fibrogenic Erk1/2 and Akt signaling molecules. 29720235 2018
Entrez Id: 1967
Gene Symbol: EIF2B1
EIF2B1
0.010 Biomarker disease BEFREE ANA-negative sera from the Scleroderma Family Registry and DNA Repository underwent indirect immunofluorescence, radiolabelled protein immunoprecipitation (± immunodepletion) to identify anti-eIF2B and other CTD-related autoantibodies. 29294089 2018
Entrez Id: 22795
Gene Symbol: NID2
NID2
0.010 AlteredExpression disease BEFREE Plasminogen activator urokinase (PLAU) overexpression in dcSSc fibroblasts reduced myofibroblast differentiation and fibroblast migration, while nidogen-2 (NID2) knockdown promoted myofibroblast differentiation and fibroblast migration. 29760157 2018