Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C4015214
Disease: CTLA4 Haploinsufficiency
CTLA4 Haploinsufficiency
0.750 GermlineCausalMutation ORPHANET Whereas Ctla4 heterozygous mice have no obvious phenotype, human CTLA4 haploinsufficiency caused dysregulation of FoxP3(+) regulatory T (Treg) cells, hyperactivation of effector T cells, and lymphocytic infiltration of target organs. 25213377

2014

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0026948
Disease: Mycosis Fungoides
Mycosis Fungoides
0.310 FusionGene ORPHANET Genomic analysis of mycosis fungoides and Sézary syndrome identifies recurrent alterations in TNFR2. 26258847

2015

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome
0.300 FusionGene ORPHANET Genomic analysis of mycosis fungoides and Sézary syndrome identifies recurrent alterations in TNFR2. 26258847

2015

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C4015214
Disease: CTLA4 Haploinsufficiency
CTLA4 Haploinsufficiency
0.750 CausalMutation CLINVAR

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 SusceptibilityMutation ORPHANET We searched all the publications about the association between CTLA-4) promoter exon-1 +49 and 1722T/C polymorphism and SLE from PubMed, Elsevier Science Direct, Chinese Biomedical Literature Database (CBM), Chinese National Knowledge Infrastructure (CNKI), and Wanfang (Chinese). 23922195

2013

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis
0.360 SusceptibilityMutation ORPHANET Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis. 22508400

2012

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 AlteredExpression LHGDN Increased expression of soluble cytotoxic T-lymphocyte-associated antigen-4 molecule in patients with systemic lupus erythematosus. 12791095

2003

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 AlteredExpression BEFREE Whether this reflects impaired downregulation by CTLA-4 molecules in SLE patients needs to be clarified further. 9857283

1998

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 AlteredExpression BEFREE Increased expression of soluble cytotoxic T-lymphocyte-associated antigen-4 molecule in patients with systemic lupus erythematosus. 12791095

2003

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 AlteredExpression BEFREE The differences in the expression of FOXP3, CTLA-4 and GITR imply the possible role of CD4(+) Tregs in the pathogenesis of SLE. 16423064

2006

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 AlteredExpression BEFREE These data suggest that high expression of Fas, FasL and IL-6 and low expression of CTLA-4 by the CD8<sup>+</sup>CD28<sup>+</sup> T-cell subset promotes the activation-induced cell death of the CD8<sup>+</sup>CD28<sup>+</sup> T-cell subset, resulting in an imbalance of CD8<sup>+</sup>CD28<sup>-</sup>/CD8<sup>+</sup>CD28<sup>+</sup> T cells in active SLE patients, which represents an important feature in the immunological pathogenesis of SLE. 31399013

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.700 AlteredExpression LHGDN An interval encompassing the CD28-CTLA4-ICOS locus on chromosome 2q33 was linked to lupus in two genome-wide linkage scans. 17000707

2006

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease
0.500 AlteredExpression BEFREE Significant increase in the serum level of sCTLA-4 was observed in HT patients compared with the HC (P = 0.0007). 23138463

2013

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease
0.500 AlteredExpression BEFREE The present study sought to explore the expression profile of the CTLA4 gene in autoimmune patients, such as rheumatoid arthritis (RA), systemic lupus erythematous (SLE) and Hashimoto's thyroiditis (HT), compared to healthy controls (HCs). 24498648

2014

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous
0.430 AlteredExpression BEFREE CD8<sup>+</sup> CTCL populations contained more T cells expressing CTLA-4 and LAG-3. 29895574

2018

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
Lymphoma, T-Cell, Cutaneous
0.430 AlteredExpression BEFREE Increased expression of CTLA-4 in malignant T-cells from patients with mycosis fungoides -- cutaneous T cell lymphoma. 16417239

2006

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 AlteredExpression BEFREE Despite their reduced suppressive activity, Tregs in the RA joint were highly proliferative and expressed FOXP3, CD39, and CTLA-4, which are markers of functional Tregs. 26062995

2015

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 AlteredExpression BEFREE We studied CD28 and CD152 expression and function in 33 rheumatoid arthritis (RA) patients, 20 clinically active and 13 inactive, and in 24 healthy donors. 11318597

2001

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 AlteredExpression BEFREE CD4 T cells in 98 blood samples of patients with RA (n = 78) or SpA (n = 20) were quantified by flow cytometry after stimulation with VZV antigen and the polyclonal stimulus Staphylococcus aureus enterotoxin B (SEB), and they were characterized for expression of cytokines (interferon-γ, tumor necrosis factor [TNF]-α, interleukin [IL]-2) and markers for activation (CD69), differentiation (CD127), or functional anergy programmed death 1 molecule [PD-1], cytotoxic T-lymphocyte antigen 4 [CTLA-4]. 30413189

2018

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 AlteredExpression BEFREE Down-regulation of CTLA-4 expression in Treg cells from RA patients was caused by methylation of a previously unidentified NF-AT binding site within the CTLA-4 gene promoter. 24891289

2014

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 AlteredExpression BEFREE The present study sought to explore the expression profile of the CTLA4 gene in autoimmune patients, such as rheumatoid arthritis (RA), systemic lupus erythematous (SLE) and Hashimoto's thyroiditis (HT), compared to healthy controls (HCs). 24498648

2014

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 AlteredExpression BEFREE We studied dipeptidyl peptidase IV (DPP-IV, CD26) expression in different T helper cells and serum soluble DPP-IV/sCD26 levels in rheumatoid arthritis (RA) patients, correlated these with disease activity score (DAS), and examined how they were affected by different therapies, conventional or biological (anti-TNF, anti-CD20 and anti-IL6R or Ig-CTLA4). 26177310

2015

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.400 AlteredExpression BEFREE In patients with untreated GD there was a statistically significant positive correlation between the expression of CTLA-4 on the surface of peripheral blood T cells and the index of TSAb antibodies (R = 0.54, p < 0.001) as well as a negative correlation with TBAb antibody titer (R = -0.58, p < 0.001). 16220002

2005

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0025202
Disease: melanoma
melanoma
0.400 AlteredExpression LHGDN CTLA-4 is a direct target of Wnt/beta-catenin signaling and is expressed in human melanoma tumors. 18563180

2008

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0025202
Disease: melanoma
melanoma
0.400 AlteredExpression BEFREE Eligible patients were at least 18 years old, with an Eastern Cooperative Oncology Group (ECOG) performance status of 0 or 1, at least one measurable lesion per Response Evaluation Criteria In Solid Tumors version 1.1 (RECIST v1.1), unresectable stage III or IV melanoma (excluding ocular melanoma), and up to one previous systemic therapy (excluding anti-CTLA-4, PD-1, or PD-L1 agents). 28822576

2017