Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 10263
Gene Symbol: CDK2AP2
CDK2AP2
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: 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: 8163
Gene Symbol: CDR3
CDR3
0.010 Biomarker disease BEFREE Thus, T cell recognition of the 70-kDa autoantigen by HLA-DR4-transgenic mice is focused on a limited number of T cell epitopes residing primarily within the RBD of the molecule, using a restricted number of TRBV and CDR3 motifs that are homologous to T cells isolated from MCTD patients. 18523312 2008
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: 1830
Gene Symbol: DSG3
DSG3
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: 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: 2078
Gene Symbol: ERG
ERG
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: 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: 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: 6624
Gene Symbol: FSCN1
FSCN1
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: 347376
Gene Symbol: H3P44
H3P44
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: 115482693
Gene Symbol: H3P8
H3P8
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: 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: 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: 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: 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: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.040 GeneticVariation disease BEFREE Our results confirm the modulating influence of HLA-DRB1 genotypes on development of connective tissue diseases such as MCTD. 26818120 2016
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.040 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: 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: 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