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: 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: 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: 26039
Gene Symbol: SS18L1
SS18L1
0.010 Biomarker disease BEFREE DNA-DR typing shows HLA-DRw11 RFLPs are increased in frequency in both progressive systemic sclerosis and CREST variants of scleroderma. 2568026 1989
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: 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: 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: 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: 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: 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: 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: 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: 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: 3586
Gene Symbol: IL10
IL10
0.010 GeneticVariation disease BEFREE We postulated that there would be a difference in IL-10 polymorphisms in patients with limited (lSSc) and diffuse (dSSc) disease. 12867583 2003
Entrez Id: 2993
Gene Symbol: GYPA
GYPA
0.010 GeneticVariation disease BEFREE To determine somatic mutation frequency at the glycophorin-A (GPA) locus in patients with limited and diffuse cutaneous scleroderma. 15565952 2005
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: 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: 3428
Gene Symbol: IFI16
IFI16
0.010 Biomarker disease BEFREE More recently, we reported that anti-IFI16 autoantibodies differentiate limited cutaneous systemic sclerosis (lcSSc) from diffuse systemic sclerosis (dcSSc). 17911419 2007
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: 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: 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: 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