Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3111
Gene Symbol: HLA-DOA
HLA-DOA
0.010 Biomarker disease BEFREE We have typed 64 Japanese patients with mixed connective tissue disease (MCTD) and 53 Japanese patients with systemic lupus erythematosus (SLE) for HLA-DRB1, DRB3, DRB4, DRB5, DQA1, DQB1, and DPB1 genes by the HLA-DNA typing method using the PCR-SSOP technique. 8456439 1993
Entrez Id: 3115
Gene Symbol: HLA-DPB1
HLA-DPB1
0.010 Biomarker disease BEFREE We have typed 64 Japanese patients with mixed connective tissue disease (MCTD) and 53 Japanese patients with systemic lupus erythematosus (SLE) for HLA-DRB1, DRB3, DRB4, DRB5, DQA1, DQB1, and DPB1 genes by the HLA-DNA typing method using the PCR-SSOP technique. 8456439 1993
Entrez Id: 3125
Gene Symbol: HLA-DRB3
HLA-DRB3
0.010 Biomarker disease BEFREE We have typed 64 Japanese patients with mixed connective tissue disease (MCTD) and 53 Japanese patients with systemic lupus erythematosus (SLE) for HLA-DRB1, DRB3, DRB4, DRB5, DQA1, DQB1, and DPB1 genes by the HLA-DNA typing method using the PCR-SSOP technique. 8456439 1993
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
0.010 GeneticVariation disease BEFREE The typing results suggest that susceptibility to MCTD is strongly associated with the HLA-DRB1*0401-DRB4*0101-DQA1*03-DQB1*0301 haplotype, and that to SLE is associated with the HLA-DRB1*1501-DRB5*0101-DQA1*0102-DQB1*0602 haplotype. 8456439 1993
Entrez Id: 6962
Gene Symbol: TRBV20OR9-2
TRBV20OR9-2
0.020 GeneticVariation disease BEFREE Mixed connective tissue disease (MCTD) and systemic lupus erythematosus (SLE) are autoimmune diseases with a genetic background, and it is reasonable to suggest that aberrations in T cell receptor (TCR) genes could contribute to these diseases, as they play an important role in immune regulation. 7912940 1994
Entrez Id: 6626
Gene Symbol: SNRPA
SNRPA
0.010 Biomarker disease BEFREE We have previously shown that autoantigen-reactive T cells (CD4+) to U1-small nuclear ribonucleoprotein A were found in the PBMC of patients with systemic lupus erythematosus or mixed connective tissue disease. 7930595 1994
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.010 AlteredExpression disease BEFREE After prednisolone was administered, her IL-6 level decreased and the symptoms of MCTD, MCD, and CFS all improved. 8091149 1994
Entrez Id: 5725
Gene Symbol: PTBP1
PTBP1
0.010 Biomarker disease BEFREE By immunoblotting, antibodies reacting to recombinant hnRNP I were found in 22 of 40 patients with systemic sclerosis (SSc), 3 of 32 with RA, 0 of 23 with SLE, and 0 of 6 with MCTD. 8843857 1996
Entrez Id: 9987
Gene Symbol: HNRNPDL
HNRNPDL
0.010 Biomarker disease BEFREE Antibodies to other hnRNP proteins (A1, A2, and B) have been previously found in patients with rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and mixed connective tissue disease (MCTD). 8843857 1996
Entrez Id: 3182
Gene Symbol: HNRNPAB
HNRNPAB
0.010 Biomarker disease BEFREE Using an hnRNP preparation from nuclear extracts, anti-hnRNP I reactivity was detectable in SSc sera, while it was not detectable in RA, SLE, and MCTD sera reacting with hnRNP A/B proteins. 8843857 1996
Entrez Id: 3183
Gene Symbol: HNRNPC
HNRNPC
0.010 Biomarker disease BEFREE Antibodies to other hnRNP proteins (A1, A2, and B) have been previously found in patients with rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and mixed connective tissue disease (MCTD). 8843857 1996
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.040 Biomarker disease BEFREE In both patients, HLA typing revealed 3 alleles typically associated with rheumatic diseases: HLA-DRB1*0405 and HLA-DQB1*0302 (associated with RA), and HLA-DRB4*01 (associated with mixed connective tissue disease and autoimmune reactions in patients with silicone breast implants. 9292814 1997
Entrez Id: 3126
Gene Symbol: HLA-DRB4
HLA-DRB4
0.030 GeneticVariation disease BEFREE In both patients, HLA typing revealed 3 alleles typically associated with rheumatic diseases: HLA-DRB1*0405 and HLA-DQB1*0302 (associated with RA), and HLA-DRB4*01 (associated with mixed connective tissue disease and autoimmune reactions in patients with silicone breast implants. 9292814 1997
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
0.010 Biomarker disease BEFREE In both patients, HLA typing revealed 3 alleles typically associated with rheumatic diseases: HLA-DRB1*0405 and HLA-DQB1*0302 (associated with RA), and HLA-DRB4*01 (associated with mixed connective tissue disease and autoimmune reactions in patients with silicone breast implants. 9292814 1997
Entrez Id: 57819
Gene Symbol: LSM2
LSM2
0.060 Biomarker disease BEFREE All components of the U1 snRNP complex, including the U1-70K protein, are important autoantigens in patients with systemic lupus erythematosus (SLE) and mixed connective tissue disease (MCTD). 11069087 2000
Entrez Id: 55599
Gene Symbol: RNPC3
RNPC3
0.060 Biomarker disease BEFREE A new conformational epitope generated by the binding of recombinant 70-kd protein and U1 RNA to anti-U1 RNP autoantibodies in sera from patients with mixed connective tissue disease. 12483732 2002
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.040 GeneticVariation disease BEFREE Interestingly, the haplotype with MICA allele 4 together with DRB1*04 and TNF1 alleles gives the most specific pattern for MCTD patients compared with controls. 12559632 2003
Entrez Id: 129831
Gene Symbol: RBM45
RBM45
0.020 GeneticVariation disease BEFREE Interestingly, the haplotype with MICA allele 4 together with DRB1*04 and TNF1 alleles gives the most specific pattern for MCTD patients compared with controls. 12559632 2003
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.010 Biomarker disease BEFREE In order to investigate major histocompatibility complex (MHC) class I chain-related gene A (MICA), tumor necrosis factor (TNFa), -308TNFA, and human leukocyte antigen (HLA-DR/DQ) polymorphisms in mixed connective tissue disease (MCTD), we analyzed 24 patients and 229 healthy controls from Sweden. 12559632 2003
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
0.010 Biomarker disease LHGDN Elevated circulating soluble CD40 ligand in patients with mixed connective tissue disease. 12605316 2003
Entrez Id: 57819
Gene Symbol: LSM2
LSM2
0.060 Biomarker disease BEFREE With high titer IgG antibodies to U1 ribonucleoprotein (U1-snRNP), this concept is supported by a specific serologic marker, and autoantibodies to U1-snRNP and to heterogeneous nuclear ribonucleoprotein (hnRNP)-A2 display MCTD specificity with regard to the recognized epitopes. 16084315 2005
Entrez Id: 6625
Gene Symbol: SNRNP70
SNRNP70
0.030 AlteredExpression disease LHGDN CD4+ T cells target epitopes residing within the RNA-binding domain of the U1-70-kDa small nuclear ribonucleoprotein autoantigen and have restricted TCR diversity in an HLA-DR4-transgenic murine model of mixed connective tissue disease. 18523312 2008
Entrez Id: 3126
Gene Symbol: HLA-DRB4
HLA-DRB4
0.030 AlteredExpression disease LHGDN CD4+ T cells target epitopes residing within the RNA-binding domain of the U1-70-kDa small nuclear ribonucleoprotein autoantigen and have restricted TCR diversity in an HLA-DR4-transgenic murine model of mixed connective tissue disease. 18523312 2008
Entrez Id: 6962
Gene Symbol: TRBV20OR9-2
TRBV20OR9-2
0.020 Biomarker disease BEFREE CD4+ T cells target epitopes residing within the RNA-binding domain of the U1-70-kDa small nuclear ribonucleoprotein autoantigen and have restricted TCR diversity in an HLA-DR4-transgenic murine model of mixed connective tissue disease. 18523312 2008
Entrez Id: 6957
Gene Symbol: TRB
TRB
0.010 Biomarker disease LHGDN CD4+ T cells target epitopes residing within the RNA-binding domain of the U1-70-kDa small nuclear ribonucleoprotein autoantigen and have restricted TCR diversity in an HLA-DR4-transgenic murine model of mixed connective tissue disease. 18523312 2008