Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
0.080 Biomarker disease BEFREE DQA1*0501 was associated with diffuse SSc in men (OR 3.0, P = 0.004, Pcorr = 0.03), but not with limited SSc in men. 11014350 2000
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
0.400 Biomarker disease BEFREE HLA-DQB1*0301 was significantly associated with SSc per se in all 3 ethnic groups; HLA-DRB1*11 correlated with the anti-topoisomerase I antibody response, and HLA-DRB1*01, DRB1*04, and DQB1*0501 with ACA. 11303306 2001
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
0.020 Biomarker disease BEFREE TN-C secretion by SSc and normal fibroblasts was compared in vivo (in bronchoalveolar lavage [BAL] fluid) and in vitro (in culture medium). 11407697 2001
Entrez Id: 83666
Gene Symbol: PARP9
PARP9
0.020 Biomarker disease BEFREE BAL fluid from SSc patients contained high levels of TN-C, whereas that from normal subjects contained little or no TN-C. 11407697 2001
Entrez Id: 10998
Gene Symbol: SLC27A5
SLC27A5
0.020 Biomarker disease BEFREE BAL fluid from SSc patients contained high levels of TN-C, whereas that from normal subjects contained little or no TN-C. 11407697 2001
Entrez Id: 1056
Gene Symbol: CEL
CEL
0.020 Biomarker disease BEFREE BAL fluid from SSc patients contained high levels of TN-C, whereas that from normal subjects contained little or no TN-C. 11407697 2001
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
0.100 AlteredExpression disease BEFREE MCP-1 expression in SSc skin sections was studied by immunohistochemistry. 11407698 2001
Entrez Id: 27306
Gene Symbol: HPGDS
HPGDS
0.020 GeneticVariation disease BEFREE Glutathione S-transferase genotypes in systemic sclerosis and their association with clinical manifestations in early disease. 11477481 2001
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.100 GeneticVariation disease BEFREE HLA-DRB1*1502; DQB1*0601 has been reported to be the most frequent anti-topo I associated haplotype among Japanese SSc patients. 11776400 2001
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
0.050 AlteredExpression disease BEFREE Gelatinase A is a specific basement membrane degrading enzyme, so increased gelatinase activity may be related to the pathophysiology of SSc by initiating microvascular damage and leakage of substances capable of producing further endothelial cell damage or fibroblast activation. 12007723 2002
Entrez Id: 1060
Gene Symbol: CENPC
CENPC
0.020 Biomarker disease BEFREE CENP-C, an autoantigen in scleroderma, is a component of the human inner kinetochore plate. 1339310 1992
Entrez Id: 4605
Gene Symbol: MYBL2
MYBL2
0.020 AlteredExpression disease BEFREE B-Myb acts as a repressor of human COL1A1 collagen gene expression by interacting with Sp1 and CBF factors in scleroderma fibroblasts. 14613485 2004
Entrez Id: 6482
Gene Symbol: ST3GAL1
ST3GAL1
0.010 AlteredExpression disease BEFREE ST3Gal I and ST6Gal I expressions were lower in patients with SSc than in healthy controls (median 0.48 vs 1.30, p < 0.0001, and 0.71 vs 1.96, p < 0.01, respectively). 14705225 2004
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.300 GeneticVariation disease LHGDN Fibrillin 1 abnormalities in dermal fibroblast cultures from first-degree relatives of patients with systemic sclerosis (scleroderma). 14730633 2004
Entrez Id: 2335
Gene Symbol: FN1
FN1
0.100 Biomarker disease BEFREE Fibronectin is also released in significantly higher amounts by scleroderma alveolar macrophages than by macrophages from healthy donors. 1491389 1992
Entrez Id: 930
Gene Symbol: CD19
CD19
0.070 AlteredExpression disease BEFREE CD19 expression levels in peripheral blood B cells were significantly elevated in both naive (P = 0.0029) and memory (P = 0.0022) B cells from patients with SSc who had the -499T allele as compared with those without the -499T allele. 15593213 2004
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.100 Biomarker disease BEFREE Transforming growth factor beta1 (TGFbeta1) is a profibrotic cytokine that stimulates excessive collagen production in patients with scleroderma or other fibrotic diseases. 15641096 2005
Entrez Id: 84654
Gene Symbol: SPZ1
SPZ1
0.010 AlteredExpression disease BEFREE TSP-1 blocking peptide or antisense oligonucleotide had an inhibitory effect on the up-regulated alpha2I collagen and phosopho-Smad3 levels in scleroderma fibroblasts but had little effects on normal fibroblasts. 15855645 2005
Entrez Id: 7180
Gene Symbol: CRISP2
CRISP2
0.010 AlteredExpression disease BEFREE TSP-1 blocking peptide or antisense oligonucleotide had an inhibitory effect on the up-regulated alpha2I collagen and phosopho-Smad3 levels in scleroderma fibroblasts but had little effects on normal fibroblasts. 15855645 2005
Entrez Id: 203074
Gene Symbol: PRSS55
PRSS55
0.010 AlteredExpression disease BEFREE TSP-1 blocking peptide or antisense oligonucleotide had an inhibitory effect on the up-regulated alpha2I collagen and phosopho-Smad3 levels in scleroderma fibroblasts but had little effects on normal fibroblasts. 15855645 2005
Entrez Id: 3105
Gene Symbol: HLA-A
HLA-A
0.030 Biomarker disease BEFREE HLA-A*30 and HLA-A*32 were also associated with susceptibility to scleroderma, while HLA-B*57 and HLA-Cw*14 were protective. 16078323 2005
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.100 Biomarker disease BEFREE HLA-DRB1*01 and HLA-DRB1*11 were associated with susceptibility to scleroderma, whereas HLA-DRB1*07 was protective. 16078323 2005
Entrez Id: 6890
Gene Symbol: TAP1
TAP1
0.020 Biomarker disease BEFREE TAP1 and TAP2 gene polymorphisms were associated with different subsets of SSc: TAP1*A/A genotype with anti-topo I-positive dcSSc (p = 0.01, p corrected = 0.04), TAP2*A1/C genotype with anti-topo I-positive lcSSc (p < 0.05), TAP2*Bky2 and *C alleles with anti-topo I-negative dcSSc (both p < 0.05), and TAP2*B/E genotype with anti-topo I-negative lcSSc (p = 0.004). 16112028 2005
Entrez Id: 3565
Gene Symbol: IL4
IL4
0.100 AlteredExpression disease BEFREE Interleukin 4 and prolonged hypoxia induce a higher gene expression of lysyl hydroxylase 2 and an altered cross-link pattern: important pathogenetic steps in early and late stage of systemic scleroderma? 16139999 2005
Entrez Id: 199
Gene Symbol: AIF1
AIF1
0.060 Biomarker disease BEFREE AIF-1 protein was present in affected vessels of the lung and skin lesions of patients with SSc. 16868985 2006