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 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: 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 SusceptibilityMutation disease ORPHANET
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: 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: 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 SusceptibilityMutation disease ORPHANET
Entrez Id: 1235
Gene Symbol: CCR6
CCR6
0.300 SusceptibilityMutation disease ORPHANET A regulatory variant in CCR6 is associated with susceptibility to antitopoisomerase-positive systemic sclerosis. 23983073 2013
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.300 SusceptibilityMutation disease ORPHANET Evidence for caveolin-1 as a new susceptibility gene regulating tissue fibrosis in systemic sclerosis. 22402147 2012
Entrez Id: 55697
Gene Symbol: VAC14
VAC14
0.100 GeneticVariation disease GWASCAT Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations. 29293537 2018
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 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 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: 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: 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 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: 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: 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: 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: 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: 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: 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: 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: 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: 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