Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 10950
Gene Symbol: BTG3
BTG3
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: 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: 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: 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: 1490
Gene Symbol: CCN2
CCN2
0.310 SusceptibilityMutation disease ORPHANET
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: 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: 1236
Gene Symbol: CCR7
CCR7
0.010 AlteredExpression disease BEFREE Memory CD4+ T cells lacking expression of CCR7 promote pro-inflammatory cytokine production in patients with diffuse cutaneous systemic sclerosis. 31789272 2019
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: 4064
Gene Symbol: CD180
CD180
0.010 AlteredExpression disease BEFREE In this study, we report decreased expression of CD180 at protein and mRNA levels in peripheral blood B cells of diffuse cutaneous systemic sclerosis (dcSSc) patients. 31817576 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
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: 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: 1401
Gene Symbol: CRP
CRP
0.010 AlteredExpression disease BEFREE A significant correlation was found between the SAA and CRP levels in patients with dSSc. 29512396 2018
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: 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: 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: 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: 1967
Gene Symbol: EIF2B1
EIF2B1
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: 8892
Gene Symbol: EIF2B2
EIF2B2
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: 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: 8894
Gene Symbol: EIF2S2
EIF2S2
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: 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