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: C0003615
Disease: Appendicitis
Appendicitis
0.010 GeneticVariation BEFREE Associations with appendicitis were found for SNPs IL-13 rs1800925 with odds ratio (OR) 6.02 (95% CI 1.52-23.78) for T/T versus C/C + T/T, for IL-17 rs2275913 with OR 2.38 (CI 1.24-4.57) for A/A vs G/G + GA, for CCL22 rs223888 with OR 0.12 (0.02-0.90), and for A/A vs G/G + GA. Signs of effect modification of age for the association with appendicitis were found for IL-13 rs1800925 and CTLA4 rs3087243. 31845023

2020

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.010 Biomarker BEFREE Deep and Durable Response With Combination CTLA-4 and PD-1 Blockade in Mismatch Repair (MMR)-proficient Endometrial Cancer. 30247204

2020

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
0.010 GeneticVariation BEFREE Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. 30508004

2020

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0042164
Disease: Uveitis
Uveitis
0.010 Biomarker BEFREE Candidate association studies based on a pathogenesis hypothesis laid the foundation for genetic research of uveitis and identified a large number of genes associated with VKH disease or BD including SUMO4, MCP-1, and CTLA4. 31669406

2020

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
Endometrial neoplasm malignant metastatic
0.010 Biomarker BEFREE Here, we describe the case of a patient with MMR-proficient, PD-L1-negative stage IV endometrial cancer who exhibited a strong clinical response to combination PD-1 and CTLA-4 inhibition. 30247204

2020

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.010 Biomarker BEFREE Deep and Durable Response With Combination CTLA-4 and PD-1 Blockade in Mismatch Repair (MMR)-proficient Endometrial Cancer. 30247204

2020

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C1377913
Disease: Pleural Mesothelioma
Pleural Mesothelioma
0.010 AlteredExpression BEFREE Since most malignant pleural mesotheliomas do not respond to anti-programmed cell death(-ligand)1 (PD-(L)1)/cytotoxic T-lymphocyte-associated protein 4 (CTLA4) therapy and given the recent finding of The Cancer Genome Atlas Study that pleural mesothelioma displays the highest expression of VISTA among all cancers studied, we examined VISTA expression in a large pleural mesothelioma cohort. 31537897

2020

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
Stage IV Uterine Corpus Cancer AJCC v6
0.010 Biomarker BEFREE Here, we describe the case of a patient with MMR-proficient, PD-L1-negative stage IV endometrial cancer who exhibited a strong clinical response to combination PD-1 and CTLA-4 inhibition. 30247204

2020

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
Microsatellite instability-high colorectal cancer
0.010 Biomarker BEFREE These features are key to understanding why immunotherapy (specifically PD-1 and/or CTLA-4 checkpoint blockade) has proved to be highly effective for the treatment of patients with advanced dMMR colorectal cancer. 31383734

2020

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia
0.010 Biomarker BEFREE To conclude, a potent protective effect of GSE on brain ischemia is evidenced and clinical trials using high dosage GSE should be envisaged on people at high risk for stroke. 30796716

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0008325
Disease: Cholecystitis
Cholecystitis
0.010 Biomarker BEFREE Anti-CTLA-4 monotherapy was associated with a higher risk of cholecystitis (P = 0.006). 31053161

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma
0.010 Biomarker BEFREE CTLA-4 TC intensity was significantly higher in yolk sac tumor, choriocarcinoma and teratoma, while PD-L1 TC positivity was significantly more frequent in choriocarcinoma. 31614500

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0009443
Disease: Common Cold
Common Cold
0.010 Biomarker BEFREE An immunocompetent B16-F10 murine melanoma model, generally considered to be a poorly immunogenic or "cold" tumour, was utilised to query whether combining localised radiotherapy with NDV may be more effective than either therapy alone in controlling tumours in mice treated with anti-PD1 or anti-CTLA4 monoclonal antibodies. 31676387

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
0.010 AlteredExpression BEFREE Patients with CRS showed significant increases in the expression of ctla4 and jak1 in sinonasal tissue and blood (p < 0.05), whereas the gene expression of hla-dqa1, hla-dqb1, and dusp4 was significantly decreased in patients with CRS compared to controls (p < 0.05). 30657646

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis
0.010 Biomarker BEFREE Effect of CTLA4-Ig (abatacept) treatment on T cells and B cells in peripheral blood of patients with polymyositis and dermatomyositis. 30451307

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0014038
Disease: Encephalitis
Encephalitis
0.010 Biomarker BEFREE Myasthenia gravis and encephalitis were associated with anti-PD-1 whereas other neurologic AEs were associated with anti-CTLA-4. 31118078

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0014145
Disease: Yolk Sac Tumor
Yolk Sac Tumor
0.010 Biomarker BEFREE CTLA-4 TC intensity was significantly higher in yolk sac tumor, choriocarcinoma and teratoma, while PD-L1 TC positivity was significantly more frequent in choriocarcinoma. 31614500

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.010 Biomarker BEFREE We have treated seven angiosarcoma (AS) patients with checkpoint inhibitors either in the context of clinical trials or off label [Pembrolizumab + Axitinib (NCT02636725; n = 1), AGEN1884, a CTLA-4 inhibitor (NCT02694822; n = 2), Pembrolizumab (n = 4)]. 31395100

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.010 Biomarker BEFREE Here, we report a case of severe hypocalcemia due to an antibody-mediated hypoparathyroidism as an immune-related adverse event (irAE) in a patient who was treated with the anti-PD-1 antibody nivolumab and anti-CTLA-4 antibody ipilimumab. 30791949

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism
0.010 Biomarker BEFREE Here, we report a case of severe hypocalcemia due to an antibody-mediated hypoparathyroidism as an immune-related adverse event (irAE) in a patient who was treated with the anti-PD-1 antibody nivolumab and anti-CTLA-4 antibody ipilimumab. 30791949

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.010 Biomarker BEFREE We present the case of a 67-year-old man with acute kidney injury (AKI) after the second cycle of combination anti-CTLA-4 and anti-PD-1 antibodies for metastatic cutaneous melanoma. 31653633

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
Childhood Acute Lymphoblastic Leukemia
0.010 Biomarker BEFREE The higher expression of immune checkpoint molecules, in particular, CTLA-4 and PD-L1 are associated with a poorer prognosis in ALL, suggesting that selective use of the immune checkpoint blockade might improve the clinical outcomes in patients with ALL. 31570447

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis
0.010 Biomarker BEFREE Along with the increasing variants, these nsSNVs' effects on the interaction of CTLA-4 with CD80/CD86 will increase, and thus influence the CTLA-4-Ig treatment efficacy against LN. 30928350

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0025205
Disease: Melanoma, Experimental
Melanoma, Experimental
0.010 Biomarker BEFREE Overall, our data demonstrate the potency of a novel combinatorial vaccination strategy combining RIG-I-driven immunization with CTLA-4 blockade to prevent and treat experimental melanoma. 30852164

2019

Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0025286
Disease: Meningioma
Meningioma
0.010 Biomarker BEFREE Here, we report for the first time the expression profiles of immune checkpoint proteins PD-L2, B7-H3 and CTLA-4 in meningioma and their association to common gene mutations. 30546952

2019