Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.410 GeneticVariation disease BEFREE Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation. 19842191 2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.410 Biomarker disease CTD_human Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant. 15726408 2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.410 Biomarker disease HPO
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.380 Biomarker disease BEFREE Moreover, WKYMVm treatment reduced the serum levels of inflammatory cytokines, such as tumor necrosis factor-α, and interferon-γ, in the scleroderma model of wild-type mice but not in Fpr2 knockout mice. 31552041 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.380 AlteredExpression disease BEFREE Here, we show that the tumor necrosis factor (TNF) superfamily protein LIGHT (homologous to lymphotoxin, exhibits inducible expression, and competes with HSV glycoprotein D for binding to HVEM, a receptor expressed on T lymphocytes) is required for experimental atopic dermatitis, and LIGHT directly controls keratinocyte hyperplasia, and production of periostin, a matricellular protein that contributes to the clinical features of atopic dermatitis as well as other skin diseases such as scleroderma. 29339444 2018
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.380 PosttranslationalModification disease BEFREE To elucidate the mechanism(s) involved, we examined the effect of IL-13 on TNF-α-induced MMP-1 expression in normal and scleroderma human dermal fibroblast lines and studied the involvement of serine/threonine kinase B/protein kinase B (Akt) in this response. 28884475 2018
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.380 Biomarker disease BEFREE The role of tumor necrosis factor alpha blockers in scleroderma cases temporally associated with CMV infection requires further evaluation. 17084440 2007
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.380 Biomarker disease BEFREE We believe these findings may have importance both for the directional pathogenesis of scleroderma progression and for the treatment of scleroderma with anti-TNF agents. 14872499 2004
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.380 Biomarker disease BEFREE Although TNFalpha was able to repress TGF-beta-induced CTGF and collagen synthesis both in normal and scleroderma skin fibroblasts, fibroblasts cultured from scleroderma patients were more resistant to TNFalpha as TNFalpha was unable to suppress the basal level of CTGF expression in scleroderma fibroblasts. 10809757 2000
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.380 Biomarker disease CTD_human Reticulate scleroderma after isolated limb perfusion with melphalan. 9843018 1998
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.380 AlteredExpression disease BEFREE The enhancement of collagenase gene expression by TNF-R55-specific TNF-alpha was augmented by simultaneous treatment of normal and scleroderma skin fibroblasts with interferon-gamma, indicating specific enhancement of TNF-R55 signaling pathway by interferon-gamma. 7636301 1995
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.380 Biomarker disease BEFREE Effects of tumor necrosis factor-alpha on connective tissue metabolism in normal and scleroderma fibroblast cultures. 8466280 1993
Entrez Id: 1440
Gene Symbol: CSF3
CSF3
0.300 Therapeutic disease CTD_human [Efficacy of anti-thymocyte globulin and cyclosporin A combined therapy in aplastic anemia complicated with limited cutaneous systemic sclerosis]. 15863969 2005
Entrez Id: 64132
Gene Symbol: XYLT2
XYLT2
0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5053
Gene Symbol: PAH
PAH
0.110 Biomarker disease BEFREE In this cross-sectional study, four groups were selected from the Australian Scleroderma Cohort Study: group 1 (n = 15) had definite PAH; group 2 (n = 19) had interstitial lung disease (ILD); group 3 (n = 30) were SSc-controls; and group 4 (n = 34) were healthy controls. 29687288 2018
Entrez Id: 3930
Gene Symbol: LBR
LBR
0.110 GeneticVariation disease BEFREE Altogether our results suggest that LMNA, ZMPSTE24, and LBR sequence variations are not major genetic determinants involved in scleroderma pathogenesis. 19645629 2009
Entrez Id: 5053
Gene Symbol: PAH
PAH
0.110 Biomarker disease HPO
Entrez Id: 3930
Gene Symbol: LBR
LBR
0.110 Biomarker disease HPO
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.100 Biomarker disease BEFREE 5-HT<sub>2</sub> and 5-HT<sub>2B</sub> antagonists attenuate pro-fibrotic phenotype in human adult dermal fibroblasts by blocking TGF-β1 induced non-canonical signaling pathways including STAT3 : implications for fibrotic diseases like scleroderma. 30207074 2018
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
0.100 Biomarker disease BEFREE The genes of SPARC, CCR2, and SMAD3 are implicated in orchestrating inflammatory response that leads to fibrosis in scleroderma and other fibrotic disorders. 30470612 2018
Entrez Id: 1490
Gene Symbol: CCN2
CCN2
0.100 AlteredExpression disease BEFREE We demonstrated that Repsox has the most potent inhibitory effects on TGF-β-induced expression of CTGF and collagen of cultured normal dermal fibroblasts in vitro and their constitutive overexpression of scleroderma fibroblast in vitro. 28418584 2017
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.100 Biomarker disease BEFREE This study shows that the increased number of macrophages with heterogeneous immunophenotypes, which might be induced by MCP-1 and CSF-1, could participate in the sclerotic lesion formation, presumably through increased fibrogenic factors such as galectin-3 and TGF-β1; the data may provide useful information to understand the pathogenesis of the human scleroderma condition. 22700848 2013
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
0.100 AlteredExpression disease BEFREE We found that bp -532 to -521 on the VEGF promoter is a putative binding site for Smads, and that the binding activity of Smad3 to VEGF promoter was constitutively increased in SSc fibroblasts as well as in normal fibroblasts treated with exogenous TGF-β1. 22740248 2013
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.100 AlteredExpression disease BEFREE We found that bp -532 to -521 on the VEGF promoter is a putative binding site for Smads, and that the binding activity of Smad3 to VEGF promoter was constitutively increased in SSc fibroblasts as well as in normal fibroblasts treated with exogenous TGF-β1. 22740248 2013
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.100 Biomarker disease BEFREE The applicability of these findings to TGFβ1-driven fibrosis in humans was examined in patients with scleroderma-related interstitial lung disease (ILD). 21484765 2011