AutismKB 2.0

Annotation Detail for CTLA4


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Basic Information Top
Gene Symbol:CTLA4 ( CD,CD152,CELIAC3,CTLA-4,GRD4,GSE,ICOS,IDDM12 )
Gene Full Name: cytotoxic T-lymphocyte-associated protein 4
Band: 2q33.2
Quick LinksEntrez ID:1493; OMIM: 123890; Uniprot ID:CTLA4_HUMAN; ENSEMBL ID: ENSG00000163599; HGNC ID: 2505
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05320Autoimmune thyroid disease
hsa04514Cell adhesion molecules (CAMs)
hsa04660T cell receptor signaling pathway
Pathway IDPathway Name
Signaling in Immune system
Pathway IDPathway Name
200039Calcineurin-regulated NFAT-dependent transcription in lymphocytes
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00082Graves' disease
H00081Hashimoto's thyroiditis
H00083Allograft rejection
Metabolic diseases
Immune system diseases
Diabetes
H00408Type I diabetes mellitus
Allergies and autoimmune diseases
Desease IDDesease Name
1753Hyperthyroidism
1766Renal Cell cancer
1779Cervical cancer
1807Autoimmune disease
1818Systemic scleroderma
1831Prostate cancer
1844Alcoholic liver disease
1868Thymoma
1894Abortion
1904Diabetes mellitus
1909Migraine
1923Generalized anxiety disorder
1930Graves' disease
1932Pancreatitis
1944Breast cancer
1958Glomerulonephritis
1964Primary biliary cirrhosis
1987Gingival overgrowth
1998Enteritis
2000Multiple malignancy
1841Stomach cancer
2030Bronchiolitis
2045Bipolar disorder
2051Leukemia
2053Colon cancer
2074Asthma
2094Ulcerative colitis
2100Hepatitis C
2146Lupus erythematosus
2171Celiac disease
2179Mycosis fungoides
2204Hemolytic anemia
2220Dermatitis
2239Lymphoma
Desease Name
HEMATOLOGICAL
rheumatoid arthritis
Sjogren's syndrome
vitiligo
coeliac disease
hepatitis, autoimmune
oral submucous fibrosis
ophthalmopathy, Graves'
myasthenia gravis
oral squamous cell cancer
diabetes, latent autoimmune
colorectal cancer
CARDIOVASCULAR
diabetes, type 1
Diabetes Mellitus
Multiple Myeloma
lymphoma
rhinitis
cardiomyopathy
Coeliac
autoimmune hypothyroidism
Behcet Syndrome
cirrhosis, alcoholic
Wegener's granulomatosis
Celiac Disease
Grave`s disease
Total IgE
CANCER
thyroid disease, autoimmune
PSYCH
dermatitis and eczema
thyroiditis, chronic lymphocytic
type 1 diabetes
autoimmune thyroid disease
susceptibility to autoimmune disease
liver disease
Hepatitis B, Chronic
ulcerative colitis
Pretibial myxedema
bronchial hyperresponsiveness
autoimmune disease
Fuchs heterochromic cyclitis
cirrhosis, biliary primary
kidney transplant
systemic sclerosis
Asthma
thrombocytopenic purpura, idiopathic
H-Thyroiditis
RENAL
breast cancer
hypothyroidism, autoimmune
multiple sclerosis
soluble cytotoxic T lymphocyte-associated antigen-4
Hashimoto's thyroiditis
sclerosis, systemic
Graves Ophthalmopathy
allogeneic stem cell transplantation
Hashimoto's thryoiditis
liver transplant
systemic lupus erythematosus
inflammatory bowel disease
IMMUNE
Graves' disease
pregnancy loss, recurrent
Arthritis, Rheumatoid
schizophrenia
atopy
METABOLIC
myeloma, multiple
Colitis, Ulcerative
lupus erythematosus
Graves disease
VISION
Liver Cirrhosis, Biliary
Anemia
Graves' hyperthyroidism
preeclampsia
diabetes, type 1 thyroid autoimmunity
Crohn's disease
HIV
hepatitis C
autoimmune response
Lupus
REPRODUCTION
diabetes, type 2
diabetes, type 1 with AITD
Graves' disease ophthalmology
autoimmune hepatitis
INFECTION
Addison's disease
cardiomyopathy, idiopathic dilated
atopic dermatitis
Desease Name
Type 1 diabetes
Rheumatoid arthritis
Celiac disease
Alopecia areata
Desease Name
Celiac disease, susceptibility to
Hypothyroidism, autoimmune
Diabetes mellitus, insulin-dependent, susceptibility to
Graves disease, susceptibility to, 4
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of CTLA4 mRNAincreases expression 18648102
D000638 Amiodarone Amiodarone results in increased expression of CTLA4 mRNAincreases expression 19774075
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CTLA4 mRNAaffects expression 16483693
C014347 decitabine decitabine results in increased expression of CTLA4 proteinincreases expression 19545742
D005419 Flavonoids Flavonoids results in increased expression of CTLA4 mRNAincreases expression 18035473
C027478 glucuronoxylomannan glucuronoxylomannan results in increased expression of CTLA4 proteinincreases expression 12864811
C006253 pirinixic acid NCF1 protein promotes the reaction [pirinixic acid results in decreased expression of CTLA4 mRNA]decreases expression|increases reaction 17950772
C006253 pirinixic acid pirinixic acid results in decreased expression of CTLA4 mRNAdecreases expression 17950772
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of CTLA4 mRNAincreases expression 18684927
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of CTLA4 proteinincreases expression 18684927
C012589 trichostatin A trichostatin A results in increased expression of CTLA4 proteinincreases expression 19545742
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1311752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.863712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.8716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.8716835633
MESH:D000506 Alopecia Areata marker/mechanism 20596022
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.9918218290 18057881 20041841
MESH:D001172 Arthritis, Rheumatoid marker/mechanism 20453842
MESH:D001281 Atrial Fibrillation Amiodarone 4.0519698954 18651412
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.341440618 11289319
MESH:D001778 Blood Coagulation Disorders Amiodarone 16.5519483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 16.5519483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 16.5512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms decitabine 2.0719208741 18320071
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.763581430 7296757
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.767296757
MESH:D002294 Carcinoma, Squamous Cell decitabine 2.6419215824
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718670907 18850075 16120746
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9519225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.3718974383
MESH:D002446 Celiac Disease marker/mechanism
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.897505956
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.359022650 19486331
MESH:D002779 Cholestasis pirinixic acid 8.3519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.188697196 12621046 15340226 16354765 15668235
MESH:D003110 Colonic Neoplasms decitabine 2.3617616700
MESH:D015179 Colorectal Neoplasms decitabine 2.1018981723
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 15322242 10048152
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.0611906362 18759878 8970840 12868966 14531868 2524372 11298694 8156756
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.713621924 2952479
MESH:D003922 Diabetes Mellitus, Type 1 marker/mechanism
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.539328219 6679447 1440618 7440962 8291058 9653073 9022650 18692083 16192314 11289319 18648102 18289764 6482804
MESH:D056486 Drug-Induced Liver Injury Amiodarone 6.5318218290 15265979
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5320420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema pirinixic acid 7.2312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.2312711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2215322242 16714409 18230668
MESH:D004701 Endocrine Gland Neoplasms decitabine 15.1119294695
MESH:D004701 Endocrine Gland Neoplasms trichostatin A 15.1119294695
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2110568697 9294722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.153581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Amiodarone 8.5014986274
MESH:D005234 Fatty Liver pirinixic acid 8.5019236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.346705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2120067830
MESH:D005909 Glioblastoma trichostatin A 3.9618801729
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.267505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006111 Graves Disease marker/mechanism 19731979
MESH:D050031 Hashimoto Disease marker/mechanism
MESH:D006258 Head and Neck Neoplasms decitabine 3.6219215824
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4311294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6520558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.756705139
MESH:D006529 Hepatomegaly Amiodarone 15.9915265979
MESH:D006529 Hepatomegaly pirinixic acid 15.9918467677 16221962 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 15.9912621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3615340226 18606429 16959395 8697196 16354765
MESH:D006937 Hypercholesterolemia Amiodarone 4.088137927 9751232
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2015034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9718850075 18670907
MESH:D007037 Hypothyroidism Amiodarone 4.7717991464 18020914
MESH:D007248 Infertility, Male decitabine 3.3317581917
MESH:D007249 Inflammation Flavonoids 5.3217296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3212878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.7616306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.348074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.146582329
MESH:D007938 Leukemia decitabine 3.1619235587 18980019
MESH:D007951 Leukemia, Myeloid decitabine 4.2119117987 17236224 18454857
MESH:D015470 Leukemia, Myeloid, Acute decitabine 4.3818704418 19010910 18206229 18460780 19387464 17679729
MESH:D015470 Leukemia, Myeloid, Acute trichostatin A 4.3818206229
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.7818055864
MESH:D008064 Lipidoses Amiodarone 3.6515342952 17567588
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3115034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1912878042
MESH:D008113 Liver Neoplasms pirinixic acid 4.4715890375 20007298 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.4716984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.13598648 6587162 1399818 3712494
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.1312151625
MESH:D008133 Long QT Syndrome Amiodarone 3.7317391786 15350150 11989578
MESH:D008171 Lung Diseases Amiodarone 3.5012587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.8018516814
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008223 Lymphoma decitabine 3.5619470736
MESH:D008545 Melanoma decitabine 3.8216505122 17785578
MESH:D008545 Melanoma trichostatin A 3.8216505122
MESH:D009101 Multiple Myeloma decitabine 8.1418172295
MESH:D009101 Multiple Myeloma trichostatin A 8.1418172295
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009181 Mycoses Amiodarone 5.2217974566 12754197
MESH:D009190 Myelodysplastic Syndromes decitabine 3.4916882708 19157545 18608210 19010910
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.543581430
MESH:D009369 Neoplasms decitabine 5.3219470736 19116145 17925555
MESH:D009369 Neoplasms pirinixic acid 5.3217405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.046679447
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.616482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.343988306
MESH:D009914 Oral Submucous Fibrosis marker/mechanism 16311067
MESH:D010051 Ovarian Neoplasms decitabine 5.4519259094 19331143
MESH:D010051 Ovarian Neoplasms trichostatin A 5.4519331143
MESH:D010190 Pancreatic Neoplasms decitabine 5.8919294695
MESH:D010190 Pancreatic Neoplasms trichostatin A 5.8919294695
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.747296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.796228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811118676 11896295 11222880 11399792
MESH:D055728 Primary Myelofibrosis decitabine 13.3117616702
MESH:D055728 Primary Myelofibrosis trichostatin A 13.3117616702
MESH:D011471 Prostatic Neoplasms trichostatin A 4.0018798265 19789329
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9211597910 12490602 12832656
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.523692021
MESH:D012208 Rhabdomyosarcoma decitabine 4.6219155313
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.3718724381
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1316192470
MESH:D013274 Stomach Neoplasms decitabine 2.1019037991
MESH:D013276 Stomach Ulcer Amiodarone 3.5218087811
MESH:D013610 Tachycardia Amiodarone 4.5311238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.4319225199
MESH:D013959 Thyroid Diseases Amiodarone 13.1419731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 13.1412697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.776587162 6582329 7505956 3712494 1399818
MESH:D013964 Thyroid Neoplasms decitabine 7.7717967635
MESH:D013971 Thyrotoxicosis Amiodarone 5.1219584973 18020914
MESH:D016171 Torsades de Pointes Amiodarone 4.4711989578 17467628
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.408074119
MESH:D001749 Urinary Bladder Neoplasms decitabine 5.4017616700 19087683
MESH:D014604 Uveal Neoplasms decitabine 5.2317785578
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
Pathway ID Pathway Name
KEGG:05320 Autoimmune thyroid disease
KEGG:04514 Cell adhesion molecules (CAMs)
KEGG:05323 Rheumatoid arthritis
REACT:6900 Signaling in Immune system
KEGG:04660 T cell receptor signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27006
    • Releated gene ID Related gene Name
    PA27006CTLA4
    Releated disease ID Related disease Name
    PA443624Carcinoma, Renal Cell
    PA443652Celiac Disease
    PA443888Diabetes Mellitus, Type 1
    PA443464Autoimmune Diseases
    PA153627493Autoimmune Thyroid Disease
    PA444329Graves Disease
    PA445859Thyroiditis, Autoimmune
    PA443886Diabetes Mellitus
    PA443888Diabetes Mellitus, Type 1
    PA446813Gingival Overgrowth
    Releated drug ID Related drug Name
    PA164749376interferon alfacon-1
    PA449167cyclosporine
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB02944 - Alpha-D-Mannose
    DB03965 - Fucose
    No data
    No data
    No data

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      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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