Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 10318
Gene Symbol: TNIP1
TNIP1
0.440 GeneticVariation disease GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989 2019
Entrez Id: 10318
Gene Symbol: TNIP1
TNIP1
0.440 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
Entrez Id: 1490
Gene Symbol: CCN2
CCN2
0.400 AlteredExpression disease BEFREE We also examined the effects of COA-Cl on CTGF expression in a mouse SSc model of angiotensin II (Ang II)-induced skin fibrosis. 30954335 2019
Entrez Id: 1490
Gene Symbol: CCN2
CCN2
0.400 Biomarker disease BEFREE Treatment with rMFG-E8 significantly inhibited latent TGFβ-induced expression of type I collagen, α-smooth muscle actin, and CCN2 in SSc fibroblasts (n = 3-8), which suggested that MFG-E8 inhibited activation of latent TGFβ as well as TGFβ signaling via binding to αv integrin. 30175895 2019
Entrez Id: 3491
Gene Symbol: CCN1
CCN1
0.330 Biomarker disease BEFREE Identification of Cysteine-Rich Angiogenic Inducer 61 as a Potential Antifibrotic and Proangiogenic Mediator in Scleroderma. 30884213 2019
Entrez Id: 10014
Gene Symbol: HDAC5
HDAC5
0.320 Biomarker disease BEFREE We previously identified CYR61 as a histone deacetylase 5 (HDAC-5)-repressed gene in systemic sclerosis (SSc; scleroderma) endothelial cells (ECs). 30884213 2019
Entrez Id: 2313
Gene Symbol: FLI1
FLI1
0.300 Biomarker disease BEFREE AQP1 is up-regulated in SSc dermal fibroblasts and SSc endothelial cells at least partially due to autocrine TGF-β stimulation and Fli1 deficiency, respectively, possibly contributing to inflammation, vasculopathy, and tissue fibrosis by regulating tissue edema and cell migration. 30270117 2019
Entrez Id: 2313
Gene Symbol: FLI1
FLI1
0.300 AlteredExpression disease BEFREE Trappin-2 expression was evaluated in SSc lesional skin and cultured endothelial cells treated with FLI1 siRNA by immunohistochemistry, reverse transcription-real-time PCR and/or immunoblotting. 30520152 2019
Entrez Id: 2313
Gene Symbol: FLI1
FLI1
0.300 Biomarker disease BEFREE Taken together, these results indicate that cyclophosphamide improves Fli1 deficiency-dependent vascular changes by normalizing the expression of angiogenesis- and vasculogenesis-related molecules and endothelial Fli1, which may help to explain the beneficial effect of cyclophosphamide on SSc vasculopathy. 30508546 2019
Entrez Id: 2355
Gene Symbol: FOSL2
FOSL2
0.300 Biomarker disease BEFREE Immunoreactivity of IL-1α and IL-1β was increased in Fra-2 TG mice and in patients with SSc. 31320452 2019
Entrez Id: 51317
Gene Symbol: PHF21A
PHF21A
0.300 Biomarker disease GENOMICS_ENGLAND De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. 30487643 2019
Entrez Id: 2355
Gene Symbol: FOSL2
FOSL2
0.300 Biomarker disease BEFREE Fra-2 overexpressing mice were initially described as a model of systemic sclerosis associated organ fibrosis, with predominant alterations in the lung. 31473307 2019
Entrez Id: 2313
Gene Symbol: FLI1
FLI1
0.300 AlteredExpression disease BEFREE Fli1 deficiency induces endothelial adipsin expression, contributing to the onset of pulmonary arterial hypertension in systemic sclerosis. 31782787 2019
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.190 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
Entrez Id: 5053
Gene Symbol: PAH
PAH
0.170 Biomarker disease BEFREE We also started treatment with riociguat because we speculated she had a component of SSc-PAH and that immunosuppressive therapy alone may be insufficient. 31183306 2019
Entrez Id: 5053
Gene Symbol: PAH
PAH
0.170 GeneticVariation disease BEFREE Patients with pulmonary arterial hypertension associated with connective tissue disease (PAH-PAH-CTD) such as systemic sclerosis (SSc) have a poorer response to treatment and increased mortality compared with patients with idiopathic PAH. 28671485 2019
Entrez Id: 5053
Gene Symbol: PAH
PAH
0.170 Biomarker disease BEFREE Twenty-nine patients (31.2%) had RHC-proven PH; of those 29 patients, 24.1% had PAH, 55.2% had World Health Organization (WHO) Group III PH, 34.5% had WHO Group III PH with pulmonary vascular resistance >3.0 Wood units, 48.3% had a PH diagnosis within 7 years of SSc onset, 82.8% received therapy for ILD, and 82.8% received therapy for PAH. 30762947 2019
Entrez Id: 5053
Gene Symbol: PAH
PAH
0.170 GeneticVariation disease BEFREE Among conventional risk factors for PAH, decreased DLCO may predict mPAP > 20 mmHg with priority in SSc patients. 31280357 2019
Entrez Id: 1776
Gene Symbol: DNASE1L3
DNASE1L3
0.120 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
Entrez Id: 54899
Gene Symbol: PXK
PXK
0.120 GeneticVariation disease GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989 2019
Entrez Id: 23534
Gene Symbol: TNPO3
TNPO3
0.110 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
Entrez Id: 3595
Gene Symbol: IL12RB2
IL12RB2
0.110 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019