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 SusceptibilityMutation disease ORPHANET
Entrez Id: 1490
Gene Symbol: CCN2
CCN2
0.310 SusceptibilityMutation disease ORPHANET
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
0.010 Biomarker disease BEFREE HLA-DQA1*0501 is associated with diffuse systemic sclerosis in Caucasian men. 11014350 2000
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: 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: 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: 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: 5657
Gene Symbol: PRTN3
PRTN3
0.010 Biomarker disease BEFREE Proteinase 3 (PR3)-antineutrophil cytoplasmic antibody (ANCA)-associated vasculitic neuropathy in diffuse cutaneous systemic sclerosis: a rare duo. 31776158 2019
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: 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: 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: 7150
Gene Symbol: TOP1
TOP1
0.010 Biomarker disease BEFREE Antibodies to DNA topoisomerase I are the marker autoantibodies for diffuse systemic sclerosis. 2479024 1989
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: 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: 3108
Gene Symbol: HLA-DMA
HLA-DMA
0.010 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: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
0.010 GeneticVariation disease BEFREE Association of amino acid sequences in the HLA-DQB1 first domain with antitopoisomerase I autoantibody response in scleroderma (progressive systemic sclerosis). 1326003 1992
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: 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: 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: 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: 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: 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: 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: 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