Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.010 GeneticVariation disease BEFREE The aim of the study was an attempt to answer the question whether there was a relationship between ABCB1 polymorphisms and morbidity of systemic sclerosis in a Polish population. 28534442 2017
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
0.010 GeneticVariation disease BEFREE The HLA antigens were determined in 54 Caucasoid patients with scleroderma (ARA criteria). 6593111 1984
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.010 AlteredExpression disease BEFREE Western blot analysis of cell lysates demonstrated that the levels of phospho-Fli-1 (Thr312) were up-regulated in SSc fibroblasts, correlating with increased levels of type I collagen and c-Abl protein. 21321929 2011
Entrez Id: 31
Gene Symbol: ACACA
ACACA
0.010 GeneticVariation disease BEFREE In addition significant difference was found between the frequencies of the IL-10 GCC, ACC haplotypes (Pc: <0.000, OR: 2.85, 95% CI: 1.74-4.63; Pc: 0.012, O.R: 1.56, 95% CI: 1.09-2.23, respectively), GCC(+)/GCC(+), GCC(-)/GCC(-) genotypes (Pc: 0.002, OR: 5.07, 95% CI: 1.82-14.21; Pc: <0.000, O.R: 4.00, 95% CI: 1.87-8.98, respectively) and SSc. 18493769 2008
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.100 GeneticVariation disease BEFREE The aim of our study was to investigate the effects of ACE insertion/deletion (I/D) and endothelial nitric oxide synthase (eNOS) Glu298Asp (G894-->T) and T-786-->C polymorphisms in patients with systemic sclerosis. 12015245 2002
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.100 AlteredExpression disease BEFREE The discrepancy between the high prevalence of D allele and reduced ACE plasma levels in SSc demonstrate the lack of knowledge on the regulation and function of renin-angiotensin system in SSc. 15016346 2004
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.100 Biomarker disease BEFREE Based on regular followup data from the German Network for Systemic Scleroderma, we used univariate and multivariate generalized estimating equations to analyze the association between clinical variables, SSc subsets, therapy [i.e., angiotensin-converting enzyme inhibitors (ACEi), corticosteroids], and the occurrence of SRC. 30936287 2020
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.100 Biomarker disease BEFREE The investigation for the pathogenesis of SSc requires more studies about the role of other candidate genes such as endothelin, TGF-beta, nitric oxide, or angiotensin II receptor in addition to the ACE genes. 16614523 2006
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.100 GeneticVariation disease LHGDN Angiotensin-converting enzyme I/D polymorphism and macrovascular disease in systemic sclerosis. 17264090 2007
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.100 GeneticVariation disease BEFREE This study evaluates the relationship between intima-media thickness (IMT), ankle-brachial pressure measurements (ABPI) and ACE I/D polymorphism in SSc patients. 17264090 2007
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.100 GeneticVariation disease BEFREE Two supplementary exonic SNP of ACE gene (rs4309, rs4362) were genotyped in 659 patients with SSc and 511 matched healthy controls. 19132786 2009
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.100 GeneticVariation disease BEFREE We examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated antigen 4 (CTLA-4) -1722T/C, CTLA-4 -318C/T, CTLA-4 +49A/G, angiotensin-converting enzyme I/D, STAT-4 rs7574865] and susceptibility to SSc. 22173230 2012
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.100 AlteredExpression disease BEFREE Patients with limited SSc had significantly higher levels of CD143+ EMP compared to those with diffuse subtype (P = 0.008). 30747487 2019
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.100 GeneticVariation disease BEFREE Moreover, our preliminary data, besides supporting the role of ACE I/D polymorphism as a predisposing factor to SSc, demonstrated its involvement in accelerated macrovascular disease by increasing the intima media thickness. 16855131 2006
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.100 GeneticVariation disease BEFREE This meta-analysis showed that the ACE I/D polymorphism was not associated with susceptibility to SSc in the study subjects and in Europeans. 25299202 2014
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.100 GeneticVariation disease LHGDN High prevalence of polymorphisms of angiotensin-converting enzyme (I/D) and endothelial nitric oxide synthase (Glu298Asp) in patients with systemic sclerosis. 12015245 2002
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.100 Biomarker disease BEFREE Previously diagnosed arterial hypertension, especially when treated with ACE inhibitors or diuretics, and glucocorticoids are independent risk factors associated with reduced GFR in SSc. 28008457 2017
Entrez Id: 2532
Gene Symbol: ACKR1
ACKR1
0.020 AlteredExpression disease BEFREE The cytokine TNFSF14 [homologous to Lymphotoxin, exhibits Inducible expression and competes with HSV Glycoprotein D for binding to HVEM, a receptor expressed on T lymphocytes (LIGHT)] has been shown in mouse models to be important for development of lung tissue remodeling that is characteristic of asthma, idiopathic pulmonary fibrosis (IPF), and systemic sclerosis (SSc). 29616048 2018
Entrez Id: 2532
Gene Symbol: ACKR1
ACKR1
0.020 Biomarker 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: 11332
Gene Symbol: ACOT7
ACOT7
0.010 AlteredExpression disease BEFREE Selexipag and mainly its active metabolite ACT-333679 were found for the first time to potentially interfere with the profibrotic activity of cultured SSc fibroblasts/myofibroblasts at least in vitro, possibly through the downregulation of fibrogenic Erk1/2 and Akt signaling molecules. 29720235 2018
Entrez Id: 55
Gene Symbol: ACP3
ACP3
0.010 Biomarker disease BEFREE In the RHC subgroup (n=28), mean (m)PAP and pulmonary vascular resistance at 50 W increased significantly (p=0.02 and p=0.002, respectively), but resting mPAP was unchanged.Scleroderma patients without PAH develop a mild but significant deterioration of pulmonary exercise haemodynamics and exercise capacity over a 4-year follow-up period, indicating a progression of pulmonary vascular disease. 28705939 2017
Entrez Id: 49
Gene Symbol: ACR
ACR
0.100 Biomarker disease BEFREE Twenty-eight percent of the patients with early SSc met the 2013 ACR/EULAR criteria. 28819792 2017
Entrez Id: 49
Gene Symbol: ACR
ACR
0.100 Biomarker disease BEFREE 2013 ACR/EULAR systemic sclerosis classification criteria in patients with associated pulmonary arterial hypertension. 29126717 2018
Entrez Id: 49
Gene Symbol: ACR
ACR
0.100 Biomarker disease BEFREE This monocentric retrospective study included patients followed from 2000 to 2014 and fulfilling ACR/EULAR 2013 criteria for systemic sclerosis and who underwent a thoracic or thoraco-abdomino-pelvic CT-scan during their follow-up. 30132216 2018
Entrez Id: 49
Gene Symbol: ACR
ACR
0.100 Biomarker disease BEFREE <b>Methods:</b> Limited (lSSc, <i>n</i> = 76) and diffuse SSc (dSSc, <i>n</i> = 41) fulfilling the ACR/EULAR 1980 and 2013 classification criteria for SSc and asymptomatic controls (<i>n</i> = 9) were included. 30821519 2019