AutismKB 2.0

Annotation Detail for TBX1


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Basic Information Top
Gene Symbol:TBX1 ( CAFS,CTHM,DGCR,DGS,DORV,TBX1C,TGA,VCFS )
Gene Full Name: T-box 1
Band: 22q11.21
Quick LinksEntrez ID:6899; OMIM: 602054; Uniprot ID:TBX1_HUMAN; ENSEMBL ID: ENSG00000184058; HGNC ID: 11592
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Immune system diseases
Primary immunodeficiency
H00107Other well-defined immunodeficiency syndromes
No data
Desease Name
heart anomalies, congenital
CARDIOVASCULAR
No data
Desease Name
Velocardiofacial syndrome
DiGeorge syndrome
Conotruncal anomaly face syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004041 Dietary Fats Dietary Fats results in decreased expression of TBX1 mRNAdecreases expression 18042831
D009151 Mustard Gas Mustard Gas results in decreased expression of TBX1 mRNAdecreases expression 15674843
C041786 palm oil palm oil results in decreased expression of TBX1 mRNAdecreases expression 18042831
C406527 R 115866 R 115866 results in decreased expression of TBX1 proteindecreases expression 17047027
D012645 Selenomethionine Selenomethionine affects the expression of TBX1 mRNAaffects expression 17222674
C004648 testosterone enanthate testosterone enanthate affects the expression of TBX1 mRNAaffects expression 17440010
D014212 Tretinoin Tretinoin results in decreased expression of TBX1 mRNAdecreases expression 16323078
D014212 Tretinoin [CRKL gene mutant form co-treated with TBX1 gene mutant form] affects the abundance of Tretinoinaffects abundance|affects cotreatment 16399080
D014212 Tretinoin TBX1 gene mutant form affects the abundance of Tretinoinaffects abundance 16399080
C034028 vanadyl sulfate vanadyl sulfate results in decreased expression of TBX1 mRNAdecreases expression 16330358
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000505 Alopecia Tretinoin 3.8115955085
MESH:D001161 Arteriosclerosis Dietary Fats 4.1915238619
MESH:D001169 Arthritis, Experimental Tretinoin 3.2116412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3116292516
MESH:D001249 Asthma Mustard Gas 5.1910378619
MESH:D001249 Asthma Tretinoin 5.1916456186
MESH:D001471 Barrett Esophagus Tretinoin 4.6816935849
MESH:D001768 Blister Mustard Gas 5.5019167455
MESH:D001778 Blood Coagulation Disorders Tretinoin 3.8516206674 16197459
MESH:D001943 Breast Neoplasms Dietary Fats 2.1720435547
MESH:D001943 Breast Neoplasms Tretinoin 2.1716873071 16166294 16443354
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.5015286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.3517687719 10378619
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.9316813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.5416168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.911917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3416051514 16096774
MESH:D002386 Cataract Tretinoin 3.2217460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.9316129372
MESH:D002822 Choriocarcinoma Tretinoin 5.5416461808
MESH:D002972 Cleft Palate Tretinoin 2.759407595
MESH:D003092 Colitis Tretinoin 4.0117035595
MESH:C535464 Conotruncal cardiac defects marker/mechanism
MESH:D019465 Craniofacial Abnormalities marker/mechanism 15190012 17000704
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.8314991402 9142499 9125849 9211117 9664655 16925845 8800419 9224671 10589399 17551590
MESH:D003921 Diabetes Mellitus, Experimental vanadyl sulfate 4.5716684804
MESH:D004062 DiGeorge Syndrome marker/mechanism 15190012 17000704 16399080
MESH:D050171 Dyslipidemias Dietary Fats 3.6218367378
MESH:D004487 Edema Mustard Gas 3.5511428647 11428631 9260866 11402378
MESH:D004489 Edema, Cardiac Tretinoin 4.8418230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.2516569247
MESH:D004890 Erythema Mustard Gas 5.509357497
MESH:D005124 Eye Abnormalities Tretinoin 3.759664655 16938888
MESH:D005234 Fatty Liver Dietary Fats 3.4817967931 18296743 19004024 19551842
MESH:D005355 Fibrosis Dietary Fats 9.8718296743
MESH:D005355 Fibrosis Tretinoin 9.8717994277
MESH:D005909 Glioblastoma Tretinoin 3.1517312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3416096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.5416084493
MESH:D006330 Heart Defects, Congenital marker/mechanism 17000704
MESH:D006330 Heart Defects, Congenital Tretinoin 3.019664655 14991402
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.1217440010
MESH:D006930 Hyperalgesia Tretinoin 3.4016870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.8321332399
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.8816778211
MESH:D006949 Hyperlipidemias Dietary Fats 3.8721332399
MESH:D007249 Inflammation Dietary Fats 5.6320412841
MESH:D007249 Inflammation Mustard Gas 5.6311402378 9357497 9260866 8975870 16001271 11428620 11428631 11428647 17524151
MESH:D007333 Insulin Resistance Dietary Fats 3.2511836018 18457598
MESH:D007410 Intestinal Diseases Tretinoin 4.0717994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.1417551590 15992940
MESH:D007938 Leukemia Tretinoin 2.8717143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.9419285840 16932348 16482212
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1117596541 19850784 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3017339181 19225113 15748426 19075265 19642359 17107899 17217047 17361223 16140955 16891316 16331271 19029980 9834237 17649720 12679006 17294898 17368321 16823087 17506722 16788101 19035177 17301526 16766008 17712046 16935935
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.479224671
MESH:D008103 Liver Cirrhosis Dietary Fats 2.9918296743
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 1.8116248980 18397230
MESH:D008171 Lung Diseases Mustard Gas 3.6018702808 18161513
MESH:D008175 Lung Neoplasms Mustard Gas 2.173148597 8781369
MESH:D008527 Medulloblastoma Tretinoin 2.8617453147
MESH:D008545 Melanoma Tretinoin 1.9716752155
MESH:D008591 Meningomyelocele Tretinoin 4.7316940565
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2017596541
MESH:D009369 Neoplasms Tretinoin 2.5116594593 16946489
MESH:D009421 Nervous System Malformations Tretinoin 4.069125849
MESH:D009436 Neural Tube Defects Tretinoin 3.209142499
MESH:D009503 Neutropenia Mustard Gas 4.237688884 16761898
MESH:D009765 Obesity Dietary Fats 2.3317217161 11836018 19632207 16723640 21332399 20132043 18674790 18457598 20518802
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4016936753
MESH:D010146 Pain Tretinoin 3.1016870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5315976015
MESH:D011041 Poisoning Mustard Gas 4.0615727166
MESH:D011507 Proteinuria Tretinoin 3.8616636307
MESH:D011537 Pruritus Mustard Gas 4.4318058305
MESH:D011625 Pterygium Tretinoin 5.1316723453
MESH:D011658 Pulmonary Fibrosis Mustard Gas 3.0010334151 17894541 17720292 17266442 17620002
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.3616116481 16283617
MESH:D012871 Skin Diseases Mustard Gas 2.7615451306 12880345 16961503
MESH:D012878 Skin Neoplasms Tretinoin 2.7016467112
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013964 Thyroid Neoplasms Tretinoin 3.2116026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.0216051514
MESH:D014376 Tuberculosis Tretinoin 3.3616040207
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9016129372
MESH:D014604 Uveal Neoplasms Tretinoin 4.9916752155
MESH:D014820 Vitiligo Tretinoin 4.3416761959
MESH:D015430 Weight Gain Dietary Fats 3.9516723640
MESH:D009396 Wilms Tumor Tretinoin 4.1816287080
No data
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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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