Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease GWASDB 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 GWASCAT Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147 2010
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease GWASDB Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147 2010
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 Biomarker disease BEFREE Furthermore, gene-gene interaction studies suggest that IRF5, STAT4, and BANK1 as well as TBX21 and STAT4 interact with regard to scleroderma susceptibility. 20090527 2010
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 Biomarker disease BEFREE Genetic studies in the systemic sclerosis (SSc), an autoimmune disease that clinically manifests with dermal and internal organ fibrosis and small vessel vasculopathy, have identified multiple susceptibility genes including HLA-class II, PTPN22, IRF5, and STAT4 which have also been associated with other autoimmune diseases, such as systemic lupus erythematosus (SLE). 19796918 2010
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 Biomarker disease CTD_human Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147 2010
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 GeneticVariation disease BEFREE Genetic studies in the systemic sclerosis (SSc), an autoimmune disease that clinically manifests with dermal and internal organ fibrosis and small vessel vasculopathy, have identified multiple susceptibility genes including HLA-class II, PTPN22, IRF5, and STAT4 which have also been associated with other autoimmune diseases, such as systemic lupus erythematosus (SLE). 19796918 2010
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 GeneticVariation disease BEFREE We identified an IRF5 risk haplotype "R" (p(adj) = 0.024, OR 1.23, 95% CI 1.07-1.40) and a mirrored protective haplotype "P" (p(adj) = 8.8 x 10(-3), OR 0.78, 95% CI 0.68-0.90) for SSc susceptibility. 20231204 2010
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 Biomarker disease CTD_human Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147 2010
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 GeneticVariation disease BEFREE We undertook the present study to determine whether IRF5 polymorphisms are also associated with a predisposition to SSc in Japanese. 19479858 2009
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 GeneticVariation disease LHGDN Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspective for pulmonary fibrosis. 19116937 2009
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 GeneticVariation disease BEFREE To determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with systemic sclerosis (SSc) in 2 European Caucasian populations and to investigate the putative gene-gene interactions between BANK1 and IRF5 as well as STAT4. 19877059 2009
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease BEFREE The BANK1, IRF5, and STAT4 risk alleles displayed a multiplicatively increased risk of dcSSc of 1.43-fold. 19877059 2009
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 GeneticVariation disease BEFREE The IRF5 rs2004640 GT substitution is associated with susceptibility to SSc. 19116937 2009
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease BEFREE Our data show a strong and reproducible association of the STAT4 gene with the genetic predisposition to lcSSc suggesting that this gene seems to be one of the genetic markers influencing SSc phenotype. 19286670 2009
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease BEFREE Multiple SNPs in TBX21 and STAT4 were found to be associated with SSc. 19950257 2009
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.500 GeneticVariation disease BEFREE An additive effect of the STAT4 rs7574865 T allele and the IRF5 rs2004640 T allele was observed, resulting in a multiple increased 1.28-fold risk of SSc. 19644887 2009
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.500 GeneticVariation disease BEFREE An additive effect of the STAT4 rs7574865 T allele and the IRF5 rs2004640 T allele was observed, resulting in a multiple increased 1.28-fold risk of SSc. 19644887 2009
Entrez Id: 919
Gene Symbol: CD247
CD247
0.460 GeneticVariation disease GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989 2019
Entrez Id: 919
Gene Symbol: CD247
CD247
0.460 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: 919
Gene Symbol: CD247
CD247
0.460 GeneticVariation disease BEFREE Our results suggest that genetic variants of CD226 and CD247 genes may not be a contributing factor in pathogenesis of SSc in Iranian population. 29338153 2017
Entrez Id: 919
Gene Symbol: CD247
CD247
0.460 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: 919
Gene Symbol: CD247
CD247
0.460 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: 919
Gene Symbol: CD247
CD247
0.460 GeneticVariation disease GWASDB Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011
Entrez Id: 919
Gene Symbol: CD247
CD247
0.460 GeneticVariation disease GWASCAT Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011