Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3586
Gene Symbol: IL10
IL10
0.010 GeneticVariation disease BEFREE We postulated that there would be a difference in IL-10 polymorphisms in patients with limited (lSSc) and diffuse (dSSc) disease. 12867583 2003
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: 54205
Gene Symbol: CYCS
CYCS
0.010 Biomarker disease BEFREE We concluded that i.v.CYC pulse therapy should be considered as an effective treatment option for skin thickening in dcSSc patients, because 43% of this group of patients were found to have a clinically relevant response. 31628802 2019
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: 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: 847
Gene Symbol: CAT
CAT
0.010 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: 2993
Gene Symbol: GYPA
GYPA
0.010 GeneticVariation disease BEFREE To determine somatic mutation frequency at the glycophorin-A (GPA) locus in patients with limited and diffuse cutaneous scleroderma. 15565952 2005
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: 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: 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: 3458
Gene Symbol: IFNG
IFNG
0.010 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: 3553
Gene Symbol: IL1B
IL1B
0.010 Biomarker disease BEFREE This clinical trial was designed to study the safety and efficacy of blocking IL-1 in skin fibrosis of patients with diffuse cutaneous systemic sclerosis (dcSSc), and to test the hypothesis that inhibition of IL-1 by rilonacept will downregulate expression of the 2G SSc gene biomarker as a surrogate for the modified Rodnan skin score (MRSS). 30277862 2019
Entrez Id: 3552
Gene Symbol: IL1A
IL1A
0.010 Biomarker disease BEFREE This clinical trial was designed to study the safety and efficacy of blocking IL-1 in skin fibrosis of patients with diffuse cutaneous systemic sclerosis (dcSSc), and to test the hypothesis that inhibition of IL-1 by rilonacept will downregulate expression of the 2G SSc gene biomarker as a surrogate for the modified Rodnan skin score (MRSS). 30277862 2019
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.310 SusceptibilityMutation disease ORPHANET The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis. 23372721 2013
Entrez Id: 5919
Gene Symbol: RARRES2
RARRES2
0.010 AlteredExpression disease BEFREE The highest chemerin levels were found in dcSSc patients (242.46 ±95.82 ng/ml). 31839772 2019
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: 3627
Gene Symbol: CXCL10
CXCL10
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: 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
Entrez Id: 9332
Gene Symbol: CD163
CD163
0.010 Biomarker disease BEFREE Skin biopsy specimens from patients with dcSSc (n = 14) and healthy controls (n = 13) were analyzed by immunohistochemistry and immunofluorescence for TSLP, TSLP receptor, CD4, CD8, CD31, and CD163 markers. 23335246 2013
Entrez Id: 5175
Gene Symbol: PECAM1
PECAM1
0.010 Biomarker disease BEFREE Skin biopsy specimens from patients with dcSSc (n = 14) and healthy controls (n = 13) were analyzed by immunohistochemistry and immunofluorescence for TSLP, TSLP receptor, CD4, CD8, CD31, and CD163 markers. 23335246 2013
Entrez Id: 64109
Gene Symbol: CRLF2
CRLF2
0.010 Biomarker disease BEFREE Skin biopsy specimens from patients with dcSSc (n = 14) and healthy controls (n = 13) were analyzed by immunohistochemistry and immunofluorescence for TSLP, TSLP receptor, CD4, CD8, CD31, and CD163 markers. 23335246 2013
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: 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 known to be associated with abnormal T cell immunoregulation. 2013671 1991
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