Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.010 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: 2200
Gene Symbol: FBN1
FBN1
0.010 AlteredExpression disease BEFREE Dermal tissue and cellular expression of fibrillin-1 in diffuse cutaneous systemic sclerosis. 20081226 2010
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: 5728
Gene Symbol: PTEN
PTEN
0.010 AlteredExpression disease BEFREE Overexpression of PTEN reduced the overexpression of type I collagen and CCN2 by dSSc fibroblasts. 21654839 2011
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: 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: 29851
Gene Symbol: ICOS
ICOS
0.010 AlteredExpression disease BEFREE ICOS expression levels were specifically increased on both peripheral blood memory T cells and Tregs from early dcSSc patients compared with those from healthy controls. 23024058 2013
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: 85480
Gene Symbol: TSLP
TSLP
0.010 AlteredExpression disease BEFREE TSLP was highly expressed in the skin of dcSSc patients, more strongly in perivascular areas and in immune cells, and was produced mainly by CD163+ cells. 23335246 2013
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: 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: 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: 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: 4353
Gene Symbol: MPO
MPO
0.010 Biomarker disease BEFREE Of the eight ANCA-positive patients, seven had limited cutaneous SSc and anti-MPO antibodies and only one had anti-PR3 antibodies, associated with diffuse cutaneous SSc. 23832959 2013
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: 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: 169044
Gene Symbol: COL22A1
COL22A1
0.010 Biomarker disease BEFREE Newly identified genes (COL4A3, COL4A4, COL5A2, COL13A1, and COL22A1) were significantly enriched in the extracellular matrix-related pathway, which is relevant to the fibrotic features of dcSSc, and in the DNA repair pathway (XRCC4). 27111861 2016
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: 3073
Gene Symbol: HEXA
HEXA
0.010 Biomarker disease BEFREE Bathing with TSD plus oral prednisone achieves better outcomes than oral prednisone alone in patients with dcSSc and is not associated with serious adverse events. 28197938 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.010 AlteredExpression disease BEFREE Our results suggest mechanisms of action for HICS, including upregulation of α-MSH, that has been shown to be anti-fibrotic in preclinical models, and possible markers to be included in future trials targeting skin in diffuse cutaneous systemic sclerosis. 28270187 2017
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: 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: 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