chr2:203853888:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr2:204,718,611-204,738,688 
hg38 chr2:203,853,888-203,873,965

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.008 squamous cell carcinoma NA BeFree,GAD,LHGDN Detail
0.003 Cardiomyopathy, Dilated NA BeFree,GAD Detail
0.175 celiac disease NA BeFree,CTD_human,GAD,LHGDN Detail
0.002 brain ischemia NA GAD Detail
0.003 Malignant tumor of cervix This meta-analysis indicates that CTLA-4 +6230G/A polymorphism may be associated... BeFree 24493286 Detail
0.005 Uterine Cervical Neoplasm NA GAD Detail
<0.001 Chediak-Higashi syndrome NA BeFree Detail
0.003 Chlamydia Infections NA BeFree,GAD Detail
0.005 Primary biliary cirrhosis Meta-analysis: the relationship between CTLA-4 +49 A/G polymorphism and primary ... BeFree 25942345 Detail
0.003 Cholangitis, Sclerosing NA BeFree,GAD Detail
<0.001 cholestasis NA BeFree Detail
0.002 choriocarcinoma NA GAD Detail
0.003 Bronchitis, Chronic NA BeFree,GAD Detail
<0.001 colitis NA BeFree Detail
0.031 ulcerative colitis NA BeFree,GAD,LHGDN Detail
0.005 Colonic Neoplasms NA GAD,LHGDN Detail
0.001 colorectal carcinoma Five functional polymorphisms of B7/CD28 co-signaling molecules alter susceptibi... BeFree 25497975 Detail
0.001 colorectal carcinoma Individual and Combined Effects of CTLA4-CD28 Variants and Oxidant-Antioxidant S... BeFree 26408701 Detail
0.003 Colorectal Neoplasms NA LHGDN Detail
<0.001 common cold NA BeFree Detail
0.006 common variable immunodeficiency NA BeFree,GAD Detail
0.002 Connective Tissue Diseases NA GAD Detail
<0.001 Coronary Arteriosclerosis NA BeFree Detail
<0.001 Coronary heart disease NA BeFree Detail
0.015 Crohn Disease Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4... BeFree,GAD,LHGDN 25367873 Detail
<0.001 Cytomegalovirus Infections Human cytomegalovirus (CMV) infection has been implicated in accelerating immuno... BeFree 25943573 Detail
0.003 Dengue Fever NA BeFree,GAD Detail
<0.001 Exfoliative dermatitis NA BeFree Detail
0.007 Dermatitis, Atopic NA BeFree,GAD,LHGDN Detail
<0.001 dermatomyositis NA BeFree Detail
<0.001 scleroderma NA BeFree Detail
0.005 Diabetes There was significant association between the three CTLA-4 genotypes (AA, AG, GG... BeFree 26415372 Detail
0.008 diabetes mellitus There was significant association between the three CTLA-4 genotypes (AA, AG, GG... BeFree,GAD 26415372 Detail
0.248 Diabetes Mellitus, Insulin-Dependent Association analysis of PTPN22, CTLA4 and IFIH1 genes with type 1 diabetes in Co... BeFree,GAD,GWASCAT,LHGDN 25042601 Detail
0.248 Diabetes Mellitus, Insulin-Dependent Association of TCR/CD3, PTPN22, CD28 and ZAP70 gene polymorphisms with type 1 di... BeFree,GAD,GWASCAT,LHGDN 25448703 Detail
0.248 Diabetes Mellitus, Insulin-Dependent Detection of Cytotoxic T-Lymphocyte Associated Antigen-4 Gene Polymorphism in Ty... BeFree,GAD,GWASCAT,LHGDN 26415372 Detail
0.021 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree,GAD Detail
<0.001 diabetic ketoacidosis NA BeFree Detail
0.002 Eczema NA BeFree Detail
<0.001 Experimental Autoimmune Encephalomyelitis NA BeFree Detail
0.003 Endocrine System Diseases NA BeFree,GAD Detail
<0.001 endometriosis NA BeFree Detail
0.002 Eosinophilia NA GAD Detail
0.003 erythema nodosum NA BeFree,GAD Detail
0.002 Disorder of eye NA BeFree Detail
0.002 Fatty Liver NA GAD Detail
0.002 Fetal Diseases NA GAD Detail
0.003 pathologic fistula NA LHGDN Detail
<0.001 Fuchs' heterochromic cyclitis NA BeFree Detail
<0.001 Gingival Diseases NA BeFree Detail
0.003 glomerulonephritis NA BeFree,LHGDN Detail
<0.001 membranous glomerulonephritis NA BeFree Detail
0.131 Graft-vs-Host Disease NA BeFree,CTD_human,GAD Detail
0.005 Hay fever NA GAD Detail
0.002 Heart Diseases NA GAD Detail
<0.001 Hematological Disease NA BeFree Detail
0.010 Hemophilia A NA BeFree,GAD Detail
0.003 Severe Dengue NA BeFree,GAD Detail
<0.001 hepatitis NA BeFree Detail
<0.001 hepatitis A NA BeFree Detail
0.010 hepatitis B Associations of CTLA4 -318 and CD28 +17 with hepatitis B virus infection in allo... BeFree,GAD 24188429 Detail
0.002 Hepatitis, Chronic NA GAD Detail
0.013 hepatitis C NA BeFree,GAD Detail
<0.001 Histiocytosis, Langerhans-Cell NA BeFree Detail
0.018 HIV Infections NA BeFree,GAD,LHGDN Detail
0.002 Hydatidiform mole NA GAD Detail
<0.001 hyperglycemia NA BeFree Detail
0.005 Immediate hypersensitivity NA GAD Detail
<0.001 hyperthyroidism NA BeFree Detail
0.002 hypoparathyroidism NA GAD Detail
0.011 hypothyroidism NA BeFree,GAD,LHGDN Detail
<0.001 Immunologic Deficiency Syndromes NA BeFree Detail
0.001 Immune System Diseases NA BeFree Detail
0.017 Inflammation NA GAD Detail
0.009 Inflammatory Bowel Diseases NA BeFree,GAD Detail
0.001 influenza Our data suggest that influenza-specific humoral immunity is significantly influ... BeFree 25816015 Detail
0.003 iridocyclitis NA LHGDN Detail
<0.001 arthropathy NA BeFree Detail
<0.001 Kidney Diseases NA BeFree Detail
<0.001 Kidney Failure, Chronic NA BeFree Detail
0.005 Kidney Neoplasm NA GAD Detail
0.002 Leishmaniasis, Cutaneous NA GAD Detail
<0.001 leprosy NA BeFree Detail
<0.001 Leprosy, Lepromatous NA BeFree Detail
<0.001 leukemia NA BeFree Detail
0.004 chronic lymphocytic leukemia NA BeFree,GAD Detail
0.003 lymphoid leukemia NA LHGDN Detail
<0.001 Acute lymphocytic leukemia NA BeFree Detail
0.001 Leukemia, Myelocytic, Acute NA BeFree Detail
0.002 myeloid leukemia NA GAD Detail
<0.001 Leukemia, Myelomonocytic, Chronic NA BeFree Detail
0.120 Adult T-Cell Lymphoma/Leukemia NA CTD_human Detail
<0.001 liver cirrhosis NA BeFree Detail
0.007 Liver Cirrhosis, Alcoholic NA GAD,LHGDN Detail
0.019 Biliary cirrhosis NA GAD,LHGDN Detail
0.005 Liver diseases NA GAD Detail
0.005 Alcoholic Liver Diseases NA GAD,LHGDN Detail
0.005 Liver neoplasms NA GAD Detail
<0.001 Lown-Ganong-Levine syndrome NA BeFree Detail
0.003 Chronic Obstructive Airway Disease NA BeFree,GAD Detail
<0.001 Lung Neoplasms NA BeFree Detail
0.007 Lupus Vulgaris Local triggering of the ICOS coreceptor by CD11c(+) myeloid cells drives organ i... BeFree,GAD 25786178 Detail
0.007 Lupus Erythematosus, Discoid Local triggering of the ICOS coreceptor by CD11c(+) myeloid cells drives organ i... BeFree,GAD 25786178 Detail
<0.001 Lupus Erythematosus, Subacute Cutaneous NA BeFree Detail
0.068 Lupus Erythematosus, Systemic Local triggering of the ICOS coreceptor by CD11c(+) myeloid cells drives organ i... BeFree,GAD,LHGDN 25786178 Detail
<0.001 Lyme disease NA BeFree Detail
<0.001 lymphocytic choriomeningitis C57BL/6 mice were inoculated with syngeneic B16F10 melanoma tumors transfected t... BeFree 25658614 Detail
0.002 Lymphocytosis NA GAD Detail
0.003 Lymphohistiocytosis, Hemophagocytic NA BeFree,GAD Detail
0.010 lymphoma NA BeFree,GAD Detail
<0.001 Lymphoma, Follicular NA BeFree Detail
0.008 Lymphoma, Non-Hodgkin NA BeFree,GAD,LHGDN Detail
<0.001 lymphopenia NA BeFree Detail
0.003 Lymphoproliferative Disorders NA BeFree,GAD Detail
0.003 Malignant neoplasm of stomach Analysis of promoter methylation, polymorphism and expression profile of cytotox... BeFree,GAD 25267951 Detail
0.002 Animal Mammary Neoplasms NA GAD Detail
0.137 melanoma Ctla-4 blockade plus adoptive T-cell transfer promotes optimal melanoma immunity... BeFree,CTD_human,GAD,LHGDN 25658614 Detail
0.137 melanoma In melanoma patients treated with an immune checkpoint therapy, high viral defen... BeFree,CTD_human,GAD,LHGDN 26317466 Detail
0.002 Meniere disease NA GAD Detail
<0.001 mitral valve stenosis NA BeFree Detail
<0.001 Monoclonal Gammopathy of Undetermined Significance NA BeFree Detail
<0.001 Mucocutaneous Lymph Node Syndrome NA BeFree Detail
0.007 multiple myeloma NA BeFree,GAD Detail
0.064 multiple sclerosis IL-15 amplifies the pathogenic properties of CD4+CD28- T cells in multiple scler... BeFree,GAD,LHGDN 25617471 Detail
0.002 Musculoskeletal Diseases NA GAD Detail
0.029 myasthenia gravis Late-onset myasthenia gravis - CTLA4(low) genotype association and low-for-age t... BeFree,GAD,LHGDN 24373506 Detail
0.029 myasthenia gravis CTLA4 variants and haplotype contribute genetic susceptibility to myasthenia gra... BeFree,GAD,LHGDN 25003519 Detail
<0.001 Mycoses NA BeFree Detail
0.003 mycosis fungoides NA BeFree,LHGDN Detail
0.003 myocardial infarction NA BeFree,GAD Detail
0.083 myocarditis NA BeFree,LHGDN,RGD Detail
0.009 Neoplasm Metastasis NA BeFree,GAD,LHGDN Detail
<0.001 nephritis NA BeFree Detail
<0.001 lipoid nephrosis NA BeFree Detail
0.123 oral submucous fibrosis NA BeFree,CTD_human,GAD Detail
0.002 osteosarcoma We demonstrate that canine OS is positive for HER2, and that canine T cells expr... BeFree 25198528 Detail
0.002 osteosarcoma The objective of our study was to conduct a meta-analysis investigating the asso... BeFree 25230787 Detail
<0.001 ovarian carcinoma Clinically, from the largest ovarian cancer data set (GSE 9899, n = 285) availab... BeFree 25136802 Detail
0.003 pancreatitis NA LHGDN Detail
<0.001 papilloma NA BeFree Detail
<0.001 paracoccidioidomycosis NA BeFree Detail
0.005 pemphigus NA BeFree,GAD Detail
<0.001 Periodontal Diseases NA BeFree Detail
0.004 periodontitis NA BeFree,LHGDN Detail
<0.001 Periodontitis, Juvenile NA BeFree Detail
0.120 Peripheral neuropathy NA BeFree,CTD_human Detail
<0.001 pneumonia Here we showed that a lack of ICOS on murine ILC2s and blocking the ICOS:ICOS-li... BeFree 25769613 Detail
<0.001 Post-kala-azar dermal leishmaniasis NA BeFree Detail
0.005 pre-eclampsia NA GAD Detail
0.002 Pregnancy Complications, Hematologic NA GAD Detail
0.003 Pretibial myxedema NA BeFree,GAD Detail
0.003 Prostatic Neoplasms NA LHGDN Detail
0.002 proteinuria NA GAD Detail
0.011 psoriasis NA BeFree,GAD,LHGDN Detail
<0.001 pulmonary fibrosis NA BeFree Detail
0.003 purpura NA LHGDN Detail
0.003 Henoch-Schoenlein purpura NA BeFree,GAD Detail
<0.001 kidney failure NA BeFree Detail
0.002 Respiratory Syncytial Virus Infections NA GAD Detail
0.002 rhinitis NA GAD Detail
0.002 Rhinitis, Allergic, Perennial NA GAD Detail
0.005 sarcoidosis NA GAD Detail
0.006 schizophrenia CTLA4 and CD28 Gene Polymorphisms with Respect to Affective Symptom Domain in Sc... BeFree,GAD 25998553 Detail
0.025 systemic scleroderma NA BeFree,GAD,LHGDN Detail
<0.001 sialadenitis NA BeFree Detail
0.003 Dermatologic disorders NA BeFree,GAD Detail
0.002 Skin Neoplasms NA GAD Detail
0.006 ankylosing spondylitis NA BeFree,GAD Detail
0.002 aphthous stomatitis NA GAD Detail
0.003 Cerebrovascular accident NA BeFree,GAD Detail
0.002 subacute sclerosing panencephalitis NA GAD Detail
0.002 Sunburn NA GAD Detail
<0.001 tetanus NA BeFree Detail
<0.001 thalassemia NA BeFree Detail
0.020 Thyroid Diseases NA BeFree,GAD,LHGDN Detail
0.003 thyroiditis NA BeFree Detail
0.002 trachoma NA GAD Detail
0.003 Chagas disease NA BeFree,GAD Detail
0.003 Tuberculosis, Pulmonary NA BeFree,GAD Detail
<0.001 urticaria CTLA-4 polymorphism in the pathogenesis of chronic spontaneous autoreactive urti... BeFree 23597501 Detail
0.002 anterior uveitis NA GAD Detail
0.003 Uveitis, Intermediate NA BeFree,GAD Detail
0.005 Uveomeningoencephalitic Syndrome NA BeFree,GAD,LHGDN Detail
0.003 vasculitis NA BeFree,GAD Detail
0.002 Virus Diseases Associations of CTLA4 -318 and CD28 +17 with hepatitis B virus infection in allo... BeFree 24188429 Detail
0.015 vitiligo NA BeFree,GAD,LHGDN Detail
<0.001 Wiskott-Aldrich syndrome NA BeFree Detail
<0.001 B-Cell Lymphomas NA BeFree Detail
0.002 diffuse large B-cell lymphoma NA GAD Detail
<0.001 Lymphoma, Large-Cell, Follicular NA BeFree Detail
<0.001 T-Cell Lymphoma NA BeFree Detail
0.121 Lymphoma, T-Cell, Cutaneous NA BeFree,CTD_human Detail
<0.001 severe combined immunodeficiency NA BeFree Detail
0.005 Bronchial Hyperreactivity NA BeFree,GAD Detail
0.002 Polyendocrinopathies, Autoimmune NA GAD Detail
<0.001 polymyositis NA BeFree Detail
<0.001 Polyglandular Type I Autoimmune Syndrome NA BeFree Detail
0.007 Pancreatitis, Chronic NA GAD Detail
<0.001 Small cell carcinoma of lung NA BeFree Detail
<0.001 Primary Sj�gren's syndrome NA BeFree Detail
0.005 Premature Birth NA GAD Detail
<0.001 Non-arthropod borne lymphocytic choriomeningitis C57BL/6 mice were inoculated with syngeneic B16F10 melanoma tumors transfected t... BeFree 25658614 Detail
<0.001 Secondary malignant neoplasm of lung NA BeFree Detail
<0.001 acute myocardial infarction NA BeFree Detail
0.002 allergic asthma NA BeFree Detail
0.003 Immunoglobulin A deficiency (disorder) NA BeFree,GAD Detail
<0.001 acute intermittent porphyria NA BeFree Detail
<0.001 Aortic Aneurysm, Abdominal NA BeFree Detail
0.001 Tumor Progression NA BeFree Detail
0.002 Diabetes, Autoimmune Allelic variant in CTLA4 is associated with thyroid failure and faster β-cell ex... BeFree 25695113 Detail
<0.001 Malignant ascites NA BeFree Detail
<0.001 Adult type dermatomyositis NA BeFree Detail
<0.001 Lesion of brain Taken together, these findings indicate that increased peripheral and local leve... BeFree 25617471 Detail
<0.001 pancreatic carcinoma NA BeFree Detail
<0.001 Rheumatoid Vasculitis NA BeFree Detail
0.012 Hepatitis, Autoimmune Meta-analysis: the relationship between CTLA-4 +49 A/G polymorphism and primary ... BeFree,GAD 25942345 Detail
<0.001 Erectile dysfunction NA BeFree Detail
0.005 Malignant neoplasm of lung NA BeFree,GAD Detail
<0.001 Lyme Arthritis NA BeFree Detail
<0.001 age related macular degeneration NA BeFree Detail
<0.001 Neoplasm, Residual NA BeFree Detail
0.003 Mucosa-Associated Lymphoid Tissue Lymphoma NA LHGDN Detail
<0.001 pemphigus foliaceus NA BeFree Detail
<0.001 chronic urticaria As the role of CTLA-4 polymorphism in autoimmune thyroid diseases is well proven... BeFree 23597501 Detail
<0.001 Psoriasis vulgaris NA BeFree Detail
<0.001 Childhood asthma NA BeFree Detail
<0.001 Chronic Periodontitis NA BeFree Detail
<0.001 axonal neuropathy NA BeFree Detail
<0.001 Inflammatory neuropathy NA BeFree Detail
0.003 Postpartum Thyroiditis NA BeFree,GAD Detail
<0.001 Severe hereditary factor VIII deficiency disease NA BeFree Detail
<0.001 Pulmonary paracoccidioidomycosis NA BeFree Detail
0.003 Metastatic melanoma Next, the first immune-activating anticytotoxic lymphocyte antigen-4 (CTLA-4) an... BeFree 25207460 Detail
0.003 Metastatic melanoma Genomic correlates of response to CTLA-4 blockade in metastatic melanoma. BeFree 26359337 Detail
0.003 cervical squamous cell carcinoma NA BeFree,GAD Detail
0.010 cervix carcinoma This meta-analysis indicates that CTLA-4 +6230G/A polymorphism may be associated... BeFree,GAD 24493286 Detail
<0.001 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse NA BeFree Detail
0.022 Thyroid associated opthalmopathies NA BeFree,GAD,LHGDN Detail
<0.001 Stable angina We evaluated both early and downstream T-cell receptor activation pathways after... BeFree 25814225 Detail
<0.001 Ulcerative jejunitis NA BeFree Detail
0.006 Hypothyroidism, Autoimmune NA BeFree,GAD Detail
<0.001 Microscopic Polyangiitis NA BeFree Detail
<0.001 Asymptomatic human immunodeficiency virus infection NA BeFree Detail
<0.001 Chronic Chagas' disease NA BeFree Detail
<0.001 Malignant neoplasm of pancreas NA BeFree Detail
0.003 prediabetes syndrome NA BeFree,GAD Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
<0.001 Hereditary hemochromatosis NA BeFree Detail
0.002 Atopy NA GAD Detail
0.003 Multiple Sclerosis, Chronic Progressive NA LHGDN Detail
0.003 Polyradiculoneuropathy, Chronic Inflammatory Demyelinating NA BeFree,GAD Detail
0.005 Immune thrombocytopenic purpura NA BeFree,GAD Detail
<0.001 Primary immune deficiency disorder NA BeFree Detail
<0.001 Idiopathic crescentic glomerulonephritis NA BeFree Detail
<0.001 Chronic rejection of renal transplant NA BeFree Detail
0.023 lupus erythematosus Local triggering of the ICOS coreceptor by CD11c(+) myeloid cells drives organ i... BeFree,GAD 25786178 Detail
<0.001 Aortic valve calcification NA BeFree Detail
<0.001 neuropathy NA BeFree Detail
<0.001 Nephrotic range proteinuria NA BeFree Detail
0.002 Dermatitis and eczema NA GAD Detail
<0.001 Chlamydia trachomatis infection NA BeFree Detail
0.001 Granulomatosis NA BeFree Detail
<0.001 Metabolic syndrome X NA BeFree Detail
0.008 Hepatitis B, Chronic NA BeFree,GAD Detail
0.006 Hepatitis C, Chronic NA BeFree,GAD,LHGDN Detail
<0.001 primary sclerosing cholangitis NA BeFree Detail
0.001 Osteosarcoma of bone We demonstrate that canine OS is positive for HER2, and that canine T cells expr... BeFree 25198528 Detail
<0.001 Aqueous Humor Disorders NA BeFree Detail
<0.001 Carcinogenesis NA BeFree Detail
<0.001 Inherited neuropathies NA BeFree Detail
<0.001 Leukemogenesis NA BeFree Detail
0.068 Lupus Erythematosus, Systemic CTLA-4 -1722T/C polymorphism and systemic lupus erythematosus susceptibility: a ... BeFree 23323522 Detail
0.068 Lupus Erythematosus, Systemic Overall, there was significant association between the 1722T/C polymorphism and ... BeFree 23922195 Detail
0.068 Lupus Erythematosus, Systemic CTLA-4 SNPs (CT60A/G, -1722T/C, -1661G/A, and -318C/T) and systemic lupus erythe... BeFree 24940764 Detail
0.025 systemic scleroderma We examined the relationship between five gene polymorphisms [cytotoxic T lympho... BeFree 22173230 Detail
<0.001 Periodontitis, Juvenile In addition, comparison of CTLA-4 SNPs between patients with CP and aggressive p... BeFree 22497911 Detail
<0.001 prostate carcinoma NA BeFree Detail
0.002 breast carcinoma This meta-analysis indicates that CTLA-4 +6230G/A polymorphism may be associated... BeFree 24493286 Detail
<0.001 multiple pathologies NA BeFree Detail
<0.001 Carcinoma of lung NA BeFree Detail
<0.001 stomach carcinoma Analysis of promoter methylation, polymorphism and expression profile of cytotox... BeFree 25267951 Detail
<0.001 Carcinoma of bladder Early results of clinical studies with anti-CTLA4 and anti-PDL1 are propelling i... BeFree 25498841 Detail
<0.001 skin carcinoma NA BeFree Detail
<0.001 Hyperlipoproteinemia Type IIa NA BeFree Detail
<0.001 early pregnancy NA BeFree Detail
<0.001 Blood autoimmune disorders NA BeFree Detail
0.002 Acute GVH disease A CT60G>A polymorphism in the CTLA-4 gene of the recipient may confer susceptibi... BeFree 25940108 Detail
0.003 Thrombocytopenic purpura NA LHGDN Detail
<0.001 Chronic graft-versus-host disease NA BeFree Detail
0.002 Cardiomyopathies NA GAD Detail
0.017 autoimmune thyroiditis NA BeFree,GAD,LHGDN Detail
<0.001 cancer regression NA BeFree Detail
<0.001 Acute coronary syndrome NA BeFree Detail
0.003 Spondylarthropathies NA BeFree,GAD Detail
<0.001 Arthritis, Collagen-Induced NA BeFree Detail
0.080 Arthritis, Experimental NA BeFree,RGD Detail
<0.001 Progressive multiple sclerosis NA BeFree Detail
<0.001 Invasive Ductal Breast Carcinoma SNP-SNP interactions of immunity related genes involved in the CD28/B7 pathway w... BeFree 25900029 Detail
<0.001 Malignant neoplasm of ovary Clinically, from the largest ovarian cancer data set (GSE 9899, n = 285) availab... BeFree 25136802 Detail
<0.001 diffuse scleroderma NA BeFree Detail
<0.001 Deficiency of vitamin D3 NA BeFree Detail
<0.001 Inflammatory disorder NA BeFree Detail
<0.001 Precursor B-cell lymphoblastic leukemia NA BeFree Detail
<0.001 Adenoma of large intestine NA BeFree Detail
<0.001 Generalized vitiligo NA BeFree Detail
<0.001 Stage IV Skin Melanoma NA BeFree Detail
<0.001 autoimmune lymphoproliferative syndrome Here we show that human ALPS DNT have features of terminally differentiated effe... BeFree 24894771 Detail
<0.001 Gastric Mucosa-Associated Lymphoid Tissue Lymphoma NA BeFree Detail
<0.001 pancreatic ductal adenocarcinoma NA BeFree Detail
0.001 Sporadic Breast Carcinoma NA BeFree Detail
0.002 Cardiomyopathy, Familial Idiopathic NA GAD Detail
0.005 Mammary Neoplasms NA BeFree,GAD,LHGDN Detail
<0.001 Human T-cell lymphotropic virus 1 infection NA BeFree Detail
<0.001 Salivary Gland Pleomorphic Adenoma NA BeFree Detail
0.002 Tumor Immunity Importantly, blocking coinhibitory molecules using antibodies specific for CTLA-... BeFree 25527357 Detail
0.002 Tumor Immunity The discovery that antibody blockade of the T cell co-inhibitory receptor cytoto... BeFree 25555570 Detail
0.009 colorectal cancer Five functional polymorphisms of B7/CD28 co-signaling molecules alter susceptibi... BeFree,GAD 25497975 Detail
0.009 colorectal cancer Individual and Combined Effects of CTLA4-CD28 Variants and Oxidant-Antioxidant S... BeFree,GAD 26408701 Detail
0.005 Sjogren's syndrome NA GAD Detail
<0.001 Glomerulonephritis, Minimal Change NA BeFree Detail
<0.001 bone sarcoma The objective of our study was to conduct a meta-analysis investigating the asso... BeFree 25230787 Detail
<0.001 Non-Neoplastic Disorder In sharp contrast with TAMG, we now find that: i) CTLA4(low) +49G(+) genotypes w... BeFree 24373506 Detail
0.120 DIABETES MELLITUS, INSULIN-DEPENDENT, 12 NA CTD_human Detail
<0.001 IMMUNE SUPPRESSION Studies with human T cells blocked for CD28 and with T cells from CD28 knockout ... BeFree 25792524 Detail
<0.001 MULTICYSTIC RENAL DYSPLASIA, BILATERAL NA BeFree Detail
<0.001 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) NA BeFree Detail
0.002 Venous thromboembolism NA GAD Detail
0.003 coronary artery disease NA BeFree,GAD Detail
<0.001 Latent autoimmune diabetes mellitus in adult The frequency of CTLA4 G alleles and genotypes in LADA patients did not differ s... BeFree 25695113 Detail
<0.001 Vasculitic neuropathy NA BeFree Detail
0.003 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree,GAD Detail
0.002 Proteinuria Adverse Event NA GAD Detail
0.005 liver carcinoma NA BeFree,GAD Detail
<0.001 Chronic kidney disease stage 5 NA BeFree Detail
<0.001 CD40 ligand deficiency NA BeFree Detail
<0.001 Allergic rhinitis (disorder) NA BeFree Detail
<0.001 autoimmune pancreatitis NA BeFree Detail
0.003 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis NA BeFree,GAD Detail
0.007 Chronic ulcerative colitis NA GAD Detail
0.002 Solar Erythema NA GAD Detail
0.126 Juvenile arthritis NA BeFree,CTD_human,GAD Detail
0.012 granulomatosis with polyangiitis NA GAD,LHGDN Detail
0.002 Thyroid associated orbitopathy NA GAD Detail
0.001 Allergic disposition NA BeFree Detail
<0.001 Allergic sensitization NA BeFree Detail
0.013 Infection NA GAD,LHGDN Detail
<0.001 juvenile rheumatoid arthritis NA BeFree Detail
<0.001 Experimental Organism Basal Cell Carcinoma NA BeFree Detail
0.240 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V NA ORPHANET,UNIPROT Detail
0.002 Spontaneous abortion NA GAD Detail
0.002 Abruptio Placentae NA GAD Detail
0.007 Addison Disease NA GAD Detail
0.003 adenocarcinoma NA BeFree,LHGDN Detail
<0.001 Affective Symptoms CTLA4 and CD28 Gene Polymorphisms with Respect to Affective Symptom Domain in Sc... BeFree 25998553 Detail
0.122 alopecia areata NA CTD_human,GAD Detail
0.003 anemia NA BeFree,GAD Detail
0.006 autoimmune hemolytic anemia NA BeFree,LHGDN Detail
<0.001 Angina, Unstable NA BeFree Detail
<0.001 Antibody Deficiency Syndrome NA BeFree Detail
<0.001 arteriosclerosis NA BeFree Detail
0.006 arthritis NA BeFree,GAD Detail
<0.001 Arthritis, Adjuvant-Induced NA BeFree Detail
0.002 Arthritis, Psoriatic NA GAD Detail
0.345 rheumatoid arthritis Killer cell immunoglobulin-like receptors (KIR) expressed on surface of natural ... BeFree,CTD_human,GAD,GWASCAT,LHGDN 24912006 Detail
0.345 rheumatoid arthritis Non-HLA single nucleotide polymorphisms (SNPs) in the intergenic regions LOC3892... BeFree,CTD_human,GAD,GWASCAT,LHGDN 25014791 Detail
0.345 rheumatoid arthritis The expansion of CD4(+)CD28(null) cells in RA patients was associated with TNFA ... BeFree,CTD_human,GAD,GWASCAT,LHGDN 25510954 Detail
0.345 rheumatoid arthritis Cytotoxic T lymphocyte associated antigen-4 (CTLA-4) +49 A>G gene polymorphism i... BeFree,CTD_human,GAD,GWASCAT,LHGDN 25542810 Detail
0.345 rheumatoid arthritis CTLA-4 and FoxP3 expression was measured by flow cytometry and quantitative poly... BeFree,CTD_human,GAD,GWASCAT,LHGDN 25604080 Detail
0.038 asthma Here we showed that a lack of ICOS on murine ILC2s and blocking the ICOS:ICOS-li... BeFree,GAD,LHGDN 25769613 Detail
<0.001 atherosclerosis NA BeFree Detail
0.002 Autoimmune Response NA GAD Detail
<0.001 Melanoma, B16 NA BeFree Detail
<0.001 Bacterial Infections NA BeFree Detail
<0.001 Mental disorders NA BeFree Detail
0.019 Behcet Syndrome NA BeFree,GAD Detail
0.003 bipolar disorder NA BeFree,LHGDN Detail
0.003 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
<0.001 Bone neoplasms NA BeFree Detail
0.009 Malignant neoplasm of breast This meta-analysis indicates that CTLA-4 +6230G/A polymorphism may be associated... BeFree,GAD 24493286 Detail
0.003 bronchiolitis NA LHGDN Detail
0.002 Bronchiolitis, Viral NA GAD Detail
0.002 calcinosis NA GAD Detail
<0.001 Malignant neoplasm of skin NA BeFree Detail
0.002 basal cell carcinoma NA GAD Detail
<0.001 Noninfiltrating Intraductal Carcinoma The more aggressive DCIS-C1 (highly proliferative, basal-like, or ERBB2(+)) disp... BeFree 26249178 Detail
0.002 Non-small cell lung carcinoma Recent early phase studies of immune checkpoint modulators, such as CTLA-4, PD-1... BeFree 24880938 Detail
0.005 renal cell carcinoma NA BeFree,GAD Detail
Annotation

Annotations

DescrptionSourceLinks
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This meta-analysis indicates that CTLA-4 +6230G/A polymorphism may be associated with a decreased ri... DisGeNET Detail
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Meta-analysis: the relationship between CTLA-4 +49 A/G polymorphism and primary biliary cirrhosis an... DisGeNET Detail
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Five functional polymorphisms of B7/CD28 co-signaling molecules alter susceptibility to colorectal c... DisGeNET Detail
Individual and Combined Effects of CTLA4-CD28 Variants and Oxidant-Antioxidant Status on the Develop... DisGeNET Detail
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Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4. DisGeNET Detail
Human cytomegalovirus (CMV) infection has been implicated in accelerating immunosenescence by shrink... DisGeNET Detail
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There was significant association between the three CTLA-4 genotypes (AA, AG, GG) and diabetic compl... DisGeNET Detail
There was significant association between the three CTLA-4 genotypes (AA, AG, GG) and diabetic compl... DisGeNET Detail
Association analysis of PTPN22, CTLA4 and IFIH1 genes with type 1 diabetes in Colombian families. DisGeNET Detail
Association of TCR/CD3, PTPN22, CD28 and ZAP70 gene polymorphisms with type 1 diabetes risk in Tunis... DisGeNET Detail
Detection of Cytotoxic T-Lymphocyte Associated Antigen-4 Gene Polymorphism in Type 1 Diabetes Mellit... DisGeNET Detail
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Associations of CTLA4 -318 and CD28 +17 with hepatitis B virus infection in allogeneic hematopoietic... DisGeNET Detail
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Our data suggest that influenza-specific humoral immunity is significantly influenced by age, and th... DisGeNET Detail
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Local triggering of the ICOS coreceptor by CD11c(+) myeloid cells drives organ inflammation in lupus... DisGeNET Detail
Local triggering of the ICOS coreceptor by CD11c(+) myeloid cells drives organ inflammation in lupus... DisGeNET Detail
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Local triggering of the ICOS coreceptor by CD11c(+) myeloid cells drives organ inflammation in lupus... DisGeNET Detail
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C57BL/6 mice were inoculated with syngeneic B16F10 melanoma tumors transfected to express low levels... DisGeNET Detail
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Analysis of promoter methylation, polymorphism and expression profile of cytotoxic T-lymphocyte-asso... DisGeNET Detail
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Ctla-4 blockade plus adoptive T-cell transfer promotes optimal melanoma immunity in mice. DisGeNET Detail
In melanoma patients treated with an immune checkpoint therapy, high viral defense signature express... DisGeNET Detail
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IL-15 amplifies the pathogenic properties of CD4+CD28- T cells in multiple sclerosis. DisGeNET Detail
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Late-onset myasthenia gravis - CTLA4(low) genotype association and low-for-age thymic output of naïv... DisGeNET Detail
CTLA4 variants and haplotype contribute genetic susceptibility to myasthenia gravis in northern Chin... DisGeNET Detail
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We demonstrate that canine OS is positive for HER2, and that canine T cells expressing a HER2-specif... DisGeNET Detail
The objective of our study was to conduct a meta-analysis investigating the associations between CTL... DisGeNET Detail
Clinically, from the largest ovarian cancer data set (GSE 9899, n = 285) available in GEO, high leve... DisGeNET Detail
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Here we showed that a lack of ICOS on murine ILC2s and blocking the ICOS:ICOS-ligand interaction in ... DisGeNET Detail
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CTLA4 and CD28 Gene Polymorphisms with Respect to Affective Symptom Domain in Schizophrenia. DisGeNET Detail
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CTLA-4 polymorphism in the pathogenesis of chronic spontaneous autoreactive urticaria. DisGeNET Detail
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Associations of CTLA4 -318 and CD28 +17 with hepatitis B virus infection in allogeneic hematopoietic... DisGeNET Detail
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C57BL/6 mice were inoculated with syngeneic B16F10 melanoma tumors transfected to express low levels... DisGeNET Detail
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Allelic variant in CTLA4 is associated with thyroid failure and faster β-cell exhaustion in latent a... DisGeNET Detail
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Taken together, these findings indicate that increased peripheral and local levels of IL-15 amplify ... DisGeNET Detail
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Meta-analysis: the relationship between CTLA-4 +49 A/G polymorphism and primary biliary cirrhosis an... DisGeNET Detail
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As the role of CTLA-4 polymorphism in autoimmune thyroid diseases is well proven we speculated on th... DisGeNET Detail
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Next, the first immune-activating anticytotoxic lymphocyte antigen-4 (CTLA-4) antibody ipilimumab ex... DisGeNET Detail
Genomic correlates of response to CTLA-4 blockade in metastatic melanoma. DisGeNET Detail
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This meta-analysis indicates that CTLA-4 +6230G/A polymorphism may be associated with a decreased ri... DisGeNET Detail
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We evaluated both early and downstream T-cell receptor activation pathways after ex vivo stimulation... DisGeNET Detail
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Local triggering of the ICOS coreceptor by CD11c(+) myeloid cells drives organ inflammation in lupus... DisGeNET Detail
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We demonstrate that canine OS is positive for HER2, and that canine T cells expressing a HER2-specif... DisGeNET Detail
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CTLA-4 -1722T/C polymorphism and systemic lupus erythematosus susceptibility: a meta-analysis involv... DisGeNET Detail
Overall, there was significant association between the 1722T/C polymorphism and overall SLE risks (O... DisGeNET Detail
CTLA-4 SNPs (CT60A/G, -1722T/C, -1661G/A, and -318C/T) and systemic lupus erythematosus: a meta-anal... DisGeNET Detail
We examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated anti... DisGeNET Detail
In addition, comparison of CTLA-4 SNPs between patients with CP and aggressive periodontitis (AgP) r... DisGeNET Detail
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This meta-analysis indicates that CTLA-4 +6230G/A polymorphism may be associated with a decreased ri... DisGeNET Detail
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Analysis of promoter methylation, polymorphism and expression profile of cytotoxic T-lymphocyte-asso... DisGeNET Detail
Early results of clinical studies with anti-CTLA4 and anti-PDL1 are propelling immune modulating dru... DisGeNET Detail
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A CT60G>A polymorphism in the CTLA-4 gene of the recipient may confer susceptibility to acute graft ... DisGeNET Detail
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SNP-SNP interactions of immunity related genes involved in the CD28/B7 pathway with susceptibility t... DisGeNET Detail
Clinically, from the largest ovarian cancer data set (GSE 9899, n = 285) available in GEO, high leve... DisGeNET Detail
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Here we show that human ALPS DNT have features of terminally differentiated effector memory T cells ... DisGeNET Detail
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Importantly, blocking coinhibitory molecules using antibodies specific for CTLA-4 and PD-1 enhances ... DisGeNET Detail
The discovery that antibody blockade of the T cell co-inhibitory receptor cytotoxic T lymphocyte-ass... DisGeNET Detail
Five functional polymorphisms of B7/CD28 co-signaling molecules alter susceptibility to colorectal c... DisGeNET Detail
Individual and Combined Effects of CTLA4-CD28 Variants and Oxidant-Antioxidant Status on the Develop... DisGeNET Detail
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The objective of our study was to conduct a meta-analysis investigating the associations between CTL... DisGeNET Detail
In sharp contrast with TAMG, we now find that: i) CTLA4(low) +49G(+) genotypes were more frequent (p... DisGeNET Detail
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Studies with human T cells blocked for CD28 and with T cells from CD28 knockout mice demonstrated th... DisGeNET Detail
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The frequency of CTLA4 G alleles and genotypes in LADA patients did not differ significantly from th... DisGeNET Detail
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CTLA4 and CD28 Gene Polymorphisms with Respect to Affective Symptom Domain in Schizophrenia. DisGeNET Detail
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Killer cell immunoglobulin-like receptors (KIR) expressed on surface of natural killer cells and CD2... DisGeNET Detail
Non-HLA single nucleotide polymorphisms (SNPs) in the intergenic regions LOC389203|RBPJ, LOC10013113... DisGeNET Detail
The expansion of CD4(+)CD28(null) cells in RA patients was associated with TNFA genotype, even at di... DisGeNET Detail
Cytotoxic T lymphocyte associated antigen-4 (CTLA-4) +49 A>G gene polymorphism in Egyptian cases wit... DisGeNET Detail
CTLA-4 and FoxP3 expression was measured by flow cytometry and quantitative polymerase chain reactio... DisGeNET Detail
Here we showed that a lack of ICOS on murine ILC2s and blocking the ICOS:ICOS-ligand interaction in ... DisGeNET Detail
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This meta-analysis indicates that CTLA-4 +6230G/A polymorphism may be associated with a decreased ri... DisGeNET Detail
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The more aggressive DCIS-C1 (highly proliferative, basal-like, or ERBB2(+)) displayed signatures cha... DisGeNET Detail
Recent early phase studies of immune checkpoint modulators, such as CTLA-4, PD-1 and PD-L1 inhibitor... DisGeNET Detail
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Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386609373 dbSNP
Genome
hg38
Position
chr2:203,853,888-203,873,965
Variant Type
snv
Genome browser