Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.320 AlteredExpression disease BEFREE Thus, 81.3% of a-Scl-70 positive patients, and 93.8% of patients with PSS with diffuse scleroderma showed either HLA-DRB1*1502 or 0802. 8064726 1994
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.320 Biomarker disease BEFREE Association analysis among DMA, DMB, and DRB1*1502 in Japanese SSc with diffuse scleroderma and SSc with a-Scl-70 indicated that the increase in DMA*0101 was not primary, but reflected an increase in HLA DRB1*1502. 9225871 1997
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.310 GeneticVariation disease BEFREE BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4. 19877059 2009
Entrez Id: 1490
Gene Symbol: CCN2
CCN2
0.310 Biomarker disease BEFREE Overexpression of PTEN reduced the overexpression of type I collagen and CCN2 by dSSc fibroblasts. 21654839 2011
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.020 Biomarker disease BEFREE Here, we report of rebound reaction in the gene expression of melanocortin receptor (MCR) subtypes and of the precursor of these receptors' ligands, the pro-opio-melanocortin protein (POMC), in the acute skin lesion of diffuse systemic sclerosis (dSSc) after treatment with a recombinant human anti-TGFβ1 antibody. 22803775 2012
Entrez Id: 4282
Gene Symbol: MIF
MIF
0.020 GeneticVariation disease BEFREE An MIF Promoter Polymorphism Is Associated with Susceptibility to Pulmonary Arterial Hypertension in Diffuse Cutaneous Systemic Sclerosis. 28668810 2017
Entrez Id: 3596
Gene Symbol: IL13
IL13
0.020 Biomarker disease BEFREE To explore the expression of thymic stromal lymphopoietin (TSLP) in patients with diffuse cutaneous systemic sclerosis (dcSSc) and compare its effects in vivo and in vitro with those of interleukin-13 (IL-13) and transforming growth factor β (TGFβ). 23335246 2013
Entrez Id: 55024
Gene Symbol: BANK1
BANK1
0.020 GeneticVariation disease BEFREE BANK1 haplotype analysis found the A-T haplotype to be protective in dcSSc patients (OR 0.70 [95% CI 0.57-0.86], P = 3.39 x 10(-4)) and the G-C haplotype to be a risk factor (OR 1.25 [95% CI 1.06-1.47], P = 0.008). 19877059 2009
Entrez Id: 129831
Gene Symbol: RBM45
RBM45
0.020 Biomarker disease BEFREE In addition, DRB1*0802 was also increased in DRB1*1502 negative patients with a-Scl-70, (50.0%, p = 0.033, pc = not significant) and in DRB1*1502 negative patients with diffuse scleroderma (75.0%, p = 0.008, pc = not significant). 8064726 1994
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.020 Biomarker disease BEFREE To evaluate CAT-192, a recombinant human antibody that neutralizes transforming growth factor beta1 (TGFbeta1), in the treatment of early-stage diffuse cutaneous systemic sclerosis (dcSSc). 17195236 2007
Entrez Id: 55024
Gene Symbol: BANK1
BANK1
0.020 GeneticVariation disease BEFREE BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians. 19815934 2010
Entrez Id: 3596
Gene Symbol: IL13
IL13
0.020 Biomarker disease BEFREE This dataset showed tumor necrosis factor-α, IFN-γ, transforming growth factor-β, and IL-13 as potential upstream regulators of the serum protein patterns in the sera of patients with diffuse cutaneous systemic sclerosis. 27640094 2017
Entrez Id: 780904
Gene Symbol: PSS
PSS
0.020 Biomarker disease BEFREE Scleroderma (progressive systemic sclerosis [PSS]) is known to be associated with abnormal T cell immunoregulation. 2013671 1991
Entrez Id: 4282
Gene Symbol: MIF
MIF
0.020 AlteredExpression disease BEFREE Serum levels, tissue expression and cellular secretion of macrophage migration inhibitory factor in limited and diffuse systemic sclerosis. 26005773 2015
Entrez Id: 780904
Gene Symbol: PSS
PSS
0.020 Biomarker disease BEFREE Scleroderma (progressive systemic sclerosis; PSS) is a connective tissue disorder in which excessive collagen is deposited in the skin and internal organs. 1404156 1992
Entrez Id: 2335
Gene Symbol: FN1
FN1
0.020 Biomarker disease BEFREE Simultaneous inhibition of c-Abl and Src kinases with Bosutinib abrogates the exaggerated expression of genes encoding fibrillar collagens, fibronectin, and TGF-β-responsive genes and reduces type I collagen, fibronectin and α-SMA production by SSc dermal fibroblasts in vitro. 30277861 2019
Entrez Id: 129831
Gene Symbol: RBM45
RBM45
0.020 Biomarker disease BEFREE Association analysis among DMA, DMB, and DRB1*1502 in Japanese SSc with diffuse scleroderma and SSc with a-Scl-70 indicated that the increase in DMA*0101 was not primary, but reflected an increase in HLA DRB1*1502. 9225871 1997
Entrez Id: 2335
Gene Symbol: FN1
FN1
0.020 Biomarker disease BEFREE Mutant fibronectin gene in skin fibroblasts of sclerotic lesions from patients with progressive systemic sclerosis. 2930599 1989
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
0.010 Biomarker disease BEFREE Epidermal growth factor receptor (EGF-R) of fibroblasts from 3 patients with scleroderma (progressive systemic sclerosis, PSS) was studied by radioiodinated-EGF binding assay. 2273486 1990
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
0.010 GeneticVariation disease BEFREE This study intends to analyze the genetic correlation of the ctla-4 gene locus with diffuse systemic sclerosis (dSSc), as well as to understand the influence of these genotypes in disease expression. 16189655 2006
Entrez Id: 8890
Gene Symbol: EIF2B4
EIF2B4
0.010 Biomarker disease BEFREE Cytoplasmic autoantibodies (in otherwise ANA-negative sera) targeting eukaryotic initiation factor-2B (anti-eIF2B) have recently been identified in SSc with clinical associations to dcSSc disease and interstitial lung disease (ILD), although the majority of samples originated from a tertiary SSc-ILD centre. 29294089 2018
Entrez Id: 3108
Gene Symbol: HLA-DMA
HLA-DMA
0.010 Biomarker disease BEFREE Association analysis among DMA, DMB, and DRB1*1502 in Japanese SSc with diffuse scleroderma and SSc with a-Scl-70 indicated that the increase in DMA*0101 was not primary, but reflected an increase in HLA DRB1*1502. 9225871 1997
Entrez Id: 6351
Gene Symbol: CCL4
CCL4
0.010 Biomarker disease BEFREE The frequency of non-classical monocytes spontaneously producing CXCL10 was increased in both limited (lcSSc) and diffuse cutaneous (dcSSC) subsets of SSc patients and CCL4 was augmented in dcSSc patients. 29127442 2018
Entrez Id: 11169
Gene Symbol: WDHD1
WDHD1
0.010 Biomarker disease BEFREE We evaluated patients from the European Scleroderma Trials and Research database with dcSSc, baseline modified Rodnan skin score (mRSS) ≥7, valid mRSS at 12±3 months after baseline and ≥1 annual follow-up visit. 30852552 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.010 AlteredExpression disease BEFREE The data also indicate that first-intron sequences of COL1A1 are required for maximal transcriptional activity of the collagen gene and may play an important role in the up-regulation of its expression in SSc fibroblasts. 8702443 1996