AutismKB 2.0

Annotation Detail for TBX6


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Basic Information Top
Gene Symbol:TBX6 ( DFNB67 )
Gene Full Name: T-box 6
Band: 16p11.2
Quick LinksEntrez ID:6911; OMIM: 602427; Uniprot ID:TBX6_HUMAN; ENSEMBL ID: ENSG00000149922; HGNC ID: 11605
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of TBX6 mRNAaffects cotreatment|increases expression 17942748
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of TBX6 geneincreases mutagenesis 16724327
15755804
C004925 methylmercuric chloride methylmercuric chloride results in decreased expression of TBX6 mRNAdecreases expression 19465457
C030589 methylmercury cysteine methylmercury cysteine results in decreased expression of TBX6 mRNAdecreases expression 19465457
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of TBX6 mRNAaffects binding|decreases expression|increases activity 19710929
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of TBX6 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced methylmercuric chloride 10.356734493
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 10.3511752688 14514962 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D000236 Adenoma Ethylnitrosourea 3.886695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.4916434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.4916835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.8719483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.8712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001927 Brain Diseases Ethylnitrosourea 5.1914991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.5915144691 16357521 16651633 16436596 18412241
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 3.9316003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.5017160924
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.5216919318 17110522 17681005 15861022 11677210 17333356 16105132
MESH:D002779 Cholestasis pirinixic acid 8.5219176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.218697196 15340226 12621046 15668235 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
OMIM:610265 DEAFNESS, AUTOSOMAL RECESSIVE 67 marker/mechanism
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.5018357618
MESH:D004487 Edema pirinixic acid 7.6312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.6311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.6515345470
MESH:D005234 Fatty Liver pirinixic acid 8.6520131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D005909 Glioblastoma Ethylnitrosourea 4.0216436596
MESH:D005910 Glioma Ethylnitrosourea 3.5916651633 16357521 18412241
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4711294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly pirinixic acid 9.6919772884 18467677 16221962 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.6915340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5716354765 15340226 8697196 18606429 16959395
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 4.2017379185
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2115474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2112878042
MESH:D008113 Liver Neoplasms pirinixic acid 4.5820007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.5816984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D008175 Lung Neoplasms Ethylnitrosourea 2.6516271038 17703301 16019985 6695378
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.6511884234 19555203
MESH:D008223 Lymphoma Ethylnitrosourea 4.1615790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.4715375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 3.7018041768 10838139 10767621
MESH:D008579 Meningioma Ethylnitrosourea 6.5017943659
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009369 Neoplasms pirinixic acid 2.0817405874
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.8216707424
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.8816651423 16003739 17160924
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.5017160924
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511896295 11399792 11118676 11222880
MESH:D011537 Pruritus Ethinyl Estradiol 3.7716919318 15861022
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.4616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.6215790496
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8715869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
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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