Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 1308
Gene Symbol: COL17A1
COL17A1
0.010 Biomarker disease BEFREE Specific Human Leukocyte Antigen Class II (HLA II) molecules associated with pemphigus vulgaris (PV), mucous membraine pemphigoid (MMP), and mixed connective tissue disease (MCTD) may react with multiple T cell epitopes within desmoglein 3 (Dsg 3), bullous pemphigoid antigen 2 (BPAG 2), and 70 kDa polypeptide small nuclear ribonucleoproteins (snRNP70) in autoantibody production. 22053914 2012
Entrez Id: 1401
Gene Symbol: CRP
CRP
0.010 Biomarker disease BEFREE In mixed connective tissue disease (MCTD) patients, NLR positively correlated with ESR and CRP, while NLR and MLR did negatively with IgM. 28766758 2017
Entrez Id: 10923
Gene Symbol: SUB1
SUB1
0.010 AlteredExpression disease BEFREE Both p8 and p14 of CaBP were found at elevated levels in sera of some patients with connective tissue diseases [highly elevated in rheumatoid arthritis (RA), Sjogren's syndrome (SjS), systemic lupus erythematosus (SLE), and progressive systemic sclerosis (PSS), and moderately in polymyositis or dermatomyositis (PM/DM) and mixed connective tissue disease (MCTD)]. 2292594 1990
Entrez Id: 6441
Gene Symbol: SFTPD
SFTPD
0.010 AlteredExpression disease BEFREE On the other hand, multivariate logistic regression analyses with calculation of the area under the curve of the receiver-operating characteristic curve suggested that a higher serum level of SP-D was a significant predictor of FVC decline in SSc/MCTD-associated ILD. 28275485 2017
Entrez Id: 2157
Gene Symbol: F8
F8
0.010 AlteredExpression disease BEFREE Elevated levels of FVIII Rag were found in 62% of patients with systemic sclerosis (SS), 38% with systemic lupus erythematosus (SLE), 67% with mixed connective tissue disease (MCTD) and in 17% with primary Raynaud's phenomenon. 2306575 1990
Entrez Id: 4354
Gene Symbol: MPP1
MPP1
0.010 Biomarker disease BEFREE Antibodies to retroviral proteins (ARP), most frequently to HIV Gag proteins p55 and p24, were found in 64% of 22 patients with systemic lupus erythematosus (SLE), in 63% of 8 patients with discoid LE (DLE), in 75% of 8 patients with mixed connective tissue disease (MCTD), and in 26% of 19 individuals with chronic biologically false-positive (CBFP) seroreactions, but not in 8 patients with subacute cutaneous lupus erythematosus. 1472125 1992
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
0.010 AlteredExpression disease BEFREE Both p8 and p14 of CaBP were found at elevated levels in sera of some patients with connective tissue diseases [highly elevated in rheumatoid arthritis (RA), Sjogren's syndrome (SjS), systemic lupus erythematosus (SLE), and progressive systemic sclerosis (PSS), and moderately in polymyositis or dermatomyositis (PM/DM) and mixed connective tissue disease (MCTD)]. 2292594 1990
Entrez Id: 6280
Gene Symbol: S100A9
S100A9
0.010 AlteredExpression disease BEFREE Both p8 and p14 of CaBP were found at elevated levels in sera of some patients with connective tissue diseases [highly elevated in rheumatoid arthritis (RA), Sjogren's syndrome (SjS), systemic lupus erythematosus (SLE), and progressive systemic sclerosis (PSS), and moderately in polymyositis or dermatomyositis (PM/DM) and mixed connective tissue disease (MCTD)]. 2292594 1990
Entrez Id: 2353
Gene Symbol: FOS
FOS
0.010 Biomarker disease BEFREE Antibodies to retroviral proteins (ARP), most frequently to HIV Gag proteins p55 and p24, were found in 64% of 22 patients with systemic lupus erythematosus (SLE), in 63% of 8 patients with discoid LE (DLE), in 75% of 8 patients with mixed connective tissue disease (MCTD), and in 26% of 19 individuals with chronic biologically false-positive (CBFP) seroreactions, but not in 8 patients with subacute cutaneous lupus erythematosus. 1472125 1992
Entrez Id: 11232
Gene Symbol: POLG2
POLG2
0.010 Biomarker disease BEFREE Antibodies to retroviral proteins (ARP), most frequently to HIV Gag proteins p55 and p24, were found in 64% of 22 patients with systemic lupus erythematosus (SLE), in 63% of 8 patients with discoid LE (DLE), in 75% of 8 patients with mixed connective tissue disease (MCTD), and in 26% of 19 individuals with chronic biologically false-positive (CBFP) seroreactions, but not in 8 patients with subacute cutaneous lupus erythematosus. 1472125 1992
Entrez Id: 2694
Gene Symbol: CBLIF
CBLIF
0.010 GeneticVariation disease BEFREE Among the seven tested SNPs, four polymorphisms: IFN-A rs10757212, IFN-A rs3758236, IFN-G rs2069705, IFN-G rs2069718, as well as INF-G rs1861493A/rs2069705A/rs2069718G haplotype were significantly associated with a predisposition for MCTD. 31766529 2019
Entrez Id: 6738
Gene Symbol: RO60
RO60
0.010 GeneticVariation disease BEFREE We also found that anti-U1-A autoantibodies most frequently occurred in MCTD patients with rs2069718 GA genotype, while the IFN-G rs2069705 AG and rs2069718 GA genotypes might be a marker of anti-Ro60 presence in MCTD patients. 31766529 2019
Entrez Id: 5034
Gene Symbol: P4HB
P4HB
0.010 Biomarker disease BEFREE Antibodies to retroviral proteins (ARP), most frequently to HIV Gag proteins p55 and p24, were found in 64% of 22 patients with systemic lupus erythematosus (SLE), in 63% of 8 patients with discoid LE (DLE), in 75% of 8 patients with mixed connective tissue disease (MCTD), and in 26% of 19 individuals with chronic biologically false-positive (CBFP) seroreactions, but not in 8 patients with subacute cutaneous lupus erythematosus. 1472125 1992
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: 5444
Gene Symbol: PON1
PON1
0.010 AlteredExpression disease BEFREE Anti-HDL antibodies were negatively associated with PON1 activity in MCTD (<i>r</i> = -0.767, <i>p</i> < 0.001) and AAV (<i>r</i> = -0.478, <i>p</i> = 0.005), whereas both anti-HDL and anti-neutrophil cytoplasm antibod levels were related to an impaired PON1 activity and TAC in IBD/UC. 29740582 2018
Entrez Id: 55740
Gene Symbol: ENAH
ENAH
0.010 Biomarker disease BEFREE Anti-dsDNA antibodies were higher in SLE and ENA showed the highest titers in MCTD. 30807792 2019
Entrez Id: 10950
Gene Symbol: BTG3
BTG3
0.010 Biomarker disease BEFREE The prevalence of ANA was increased in most patients with systemic especially in neuropathy (NP), hemolytic anemia (HA), primary Sjogren's syndrome (pSS), dermatomyositis (DM), thrombocytopenia (Tb), systemic sclerosis (SSc), ANCA-associated vasculitis (AAV), AP, Renal impairment (RI), SLE, and mixed connective tissue disease (MCTD). 30807792 2019
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
Entrez Id: 3447
Gene Symbol: IFNA13
IFNA13
0.010 Biomarker disease BEFREE Our results indicate that IFN-G genetic variants may be potential genetic biomarkers for MCTD susceptibility and severity. 31766529 2019
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
0.010 Biomarker disease BEFREE Our study suggests that serum KL-6 can be a useful monitoring tool of SSc/MCTD-associated ILD activity. 28275485 2017
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: 3586
Gene Symbol: IL10
IL10
0.010 Biomarker disease BEFREE IL-10, IL-12 and IL-17F as inflammatory cytokines might be an important functional candidate genes for autoimmune diseases including MCTD. 25159155 2015
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