Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 AlteredExpression disease BEFREE Taken together, our results uncovered a mechanistic insight of a noncoding functional variant acting as an allele-specific distal enhancer to directly modulate IRF5 expression, which might obligate in understanding of complex genetic architectures of SLE and SSc pathogenesis. 31421124 2020
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989 2019
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 PosttranslationalModification disease BEFREE A higher level of methylation of GATA3 or STAT4 (Th2- and Th1-specific transcription factor genes, respectively) was observed in dcSSc. 31789272 2019
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease GWASCAT Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations. 29293537 2018
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease GWASCAT Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis. 28314753 2017
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease BEFREE Among these genes, IRF5, STAT4, and CD247 were replicated most frequently while SNPs rs35677470 in DNASE1L3, rs5029939 in TNFAIP3, and rs7574685 in STAT4 have the strongest associations with SSc. 28526340 2017
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 GeneticVariation disease BEFREE Among eight SSc-associated susceptibility polymorphisms which were applied for meta-analysis, IRF5 rs2004640 polymorphism (OR 1.12; 95% CI 1.02-1.22, P = 1.39 × 10<sup>-2</sup>), STAT4 rs7574865 polymorphism (OR 1.25; 95% CI 1.07-1.47, P = 5.3 × 10<sup>-3</sup>), IRAK1 rs1059702 polymorphism (OR 1.20; 95% CI 1.05-1.37, P = 0.007), and CTGF G-945C polymorphism (OR 1.42; 95% CI 1.18-1.71, P = 0.002) are associated with PF status in SSc, while TNFAIP3 rs5029939, CD226 rs763361, CD247 rs2056626, and IRF5 rs10488631 polymorphisms are not. 28434122 2017
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 Biomarker disease BEFREE Since IRF5, STAT4, and IRAK1 are important regulatory factors in the control of innate immune responses and CTGF is involved in the synthesis of extracellular matrix, these results suggest a role of the innate immunity and matrix compounds in the pathogenesis of PF in SSc. 28434122 2017
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease BEFREE For STAT4 polymorphism, we observed a statistically significant positive association between risk factor T allele carriers and SSc susceptibility (OR = 1.37, 95% CI = 1.27-1.48, P < 0.00001) in the overall population. 26712637 2016
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 GeneticVariation disease BEFREE For IRF5 polymorphism, the T allele was shown to be strongly associated with increased SSc risk (OR = 1.27, 95% CI = 1.17-1.39, P < 0.00001). 26712637 2016
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 GeneticVariation disease BEFREE The present study aimed to examine whether the SSc-associated SNP rs2004640 of IRF5 gene confer susceptibility to SSc and clinical features of SSc in a Han Chinese population. 25572744 2015
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease GWASCAT Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis. 24387989 2014
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 GeneticVariation disease BEFREE This meta-analysis certified that IRF5 polymorphisms confer susceptibility to SLE, MS, and SSc. 25036352 2014
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 GeneticVariation disease BEFREE A meta-analysis of the allele frequencies was performed to analyse the overall effect of these IRF5 genetic variants on SSc. 23372721 2013
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease GWASCAT A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937 2013
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease GWASDB A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937 2013
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease BEFREE The results were consistent with previous reports in other ethnic populations in supporting the notion that polymorphisms of STAT4 may play an important role in susceptibility to SSc. 23755762 2013
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease BEFREE Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study. 22440820 2012
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 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: 3663
Gene Symbol: IRF5
IRF5
0.500 GeneticVariation disease BEFREE An SNP in the IRF5 promoter region (rs4728142), associated with lower IRF5 transcript levels, was predictive of longer survival and milder ILD in patients with SSc. 22440820 2012
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease GWASCAT Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. 21779181 2011
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease GWASDB Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease GWASCAT Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011