|
Immunodeficiency due to Defect in CD3-Zeta
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
γδ T Lymphocytes in the Diagnosis of Human T Cell Receptor Immunodeficiencies.
|
25688246 |
2015 |
|
Immunodeficiency due to Defect in CD3-Zeta
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Immunodeficiency due to Defect in CD3-Zeta
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Immunodeficiency due to Defect in CD3-Zeta
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Systemic Scleroderma
|
0.460 |
GeneticVariation
|
disease |
GWASCAT |
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.
|
31672989 |
2019 |
|
Systemic Scleroderma
|
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 |
|
Systemic Scleroderma
|
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 |
|
Systemic Scleroderma
|
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 |
|
Systemic Scleroderma
|
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 |
|
Systemic Scleroderma
|
0.460 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.
|
21750679 |
2011 |
|
Systemic Scleroderma
|
0.460 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.
|
21750679 |
2011 |
|
Systemic Scleroderma
|
0.460 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
|
20383147 |
2010 |
|
Systemic Scleroderma
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Analysis of 279,621 autosomal SNPs followed by replication testing in an independent case-control set of European ancestry (2,753 individuals with SSc (cases) and 4,569 controls) identified a new susceptibility locus for systemic sclerosis at CD247 (1q22-23, rs2056626, P = 2.09 x 10(-7) in the discovery samples, P = 3.39 x 10(-9) in the combined analysis).
|
20383147 |
2010 |
|
Systemic Scleroderma
|
0.460 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
|
20383147 |
2010 |
|
Systemic Scleroderma
|
0.460 |
Biomarker
|
disease |
CTD_human |
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
|
20383147 |
2010 |
|
Systemic Scleroderma
|
0.460 |
AlteredExpression
|
disease |
BEFREE |
We demonstrated that protein expression of the TCR zeta chain was significantly decreased in peripheral T cells from patients with SLE compared to normal controls and patients with systemic sclerosis (SSc).
|
9701029 |
1998 |
|
Severe Combined Immunodeficiency
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
γδ T Lymphocytes in the Diagnosis of Human T Cell Receptor Immunodeficiencies.
|
25688246 |
2015 |
|
Severe Combined Immunodeficiency
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Juvenile pauciarticular chronic arthritis
|
0.300 |
SusceptibilityMutation
|
disease |
ORPHANET |
Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap.
|
22294642 |
2012 |
|
Lupus Erythematosus, Systemic
|
0.200 |
Biomarker
|
disease |
BEFREE |
Serine/arginine-rich splicing factor 1 (SRSF1) binds pre-messenger RNA (pre-mRNA) to regulate AS forms of several genes, including CD3ζ in SLE T cells.
|
29905030 |
2018 |
|
Lupus Erythematosus, Systemic
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
We found reduced CD3ζ expression in NK cells from SLE patients independent of disease activity.
|
29602774 |
2018 |
|
Lupus Erythematosus, Systemic
|
0.200 |
PosttranslationalModification
|
disease |
BEFREE |
Furthermore, a higher CD3Z methylation level was significantly correlated with a higher SLE disease activity index and more severe clinical manifestations, such as proteinuria, haemolytic anaemia and thrombocytopenia, whereas VHL hypermethylation was not.
|
27940592 |
2017 |
|
Lupus Erythematosus, Systemic
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Thus our study identifies a novel mechanism whereby SRSF1 regulates CD3ζ expression in human T cells and may contribute to the T cell defect in SLE.
|
26134847 |
2015 |
|
Lupus Erythematosus, Systemic
|
0.200 |
Biomarker
|
disease |
BEFREE |
Our study independently confirms and extends the association of SLE with CD247, which is shared by various autoimmune disorders and supports a common T-cell-mediated mechanism.
|
25569266 |
2015 |
|
Lupus Erythematosus, Systemic
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Aberrant CD247 transcript variants displaying either spliced exon 7 or short 3'-untranslated region have been detected in SLE T cells, and a recent genome-wide association study reported the existence of new CD247 single-nucleotide polymorphisms in SLE patients.
|
23525753 |
2013 |