AutismKB 2.0

Annotation Detail for EXT1


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Basic Information Top
Gene Symbol:EXT1 ( EXT,LGCR,LGS,TRPS2,TTV )
Gene Full Name: exostosin 1
Band: 8q24.11
Quick LinksEntrez ID:2131; OMIM: 608177; Uniprot ID:EXT1_HUMAN; ENSEMBL ID: ENSG00000182197; HGNC ID: 3512
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6564heparan sulfate biosynthesis
PWY-6558heparan sulfate biosynthesis (late stages)
Pathway IDPathway Name
hsa00534Glycosaminoglycan biosynthesis - heparan sulfate
hsa01100Metabolic pathways
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of glycan/glycoprotein metabolism
H00122Multiple exostoses
Genetic disorders
Desease IDDesease Name
1824Bone disease
1832Congenital abnormality
1848Embryoma
2124Autistic disorder
Desease Name
height
DEVELOPMENTAL
Desease Name
Height
Desease Name
Exostoses, multiple, type 1
Chondrosarcoma
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of EXT1 mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of EXT1 mRNAdecreases expression 20106945
20064835
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of EXT1 mRNAaffects expression 20382639
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of EXT1 mRNAdecreases expression 19150397
C121718 dicyclanil dicyclanil results in increased expression of EXT1 mRNAincreases expression 15664270
D004041 Dietary Fats Dietary Fats results in decreased expression of EXT1 mRNAdecreases expression 18042831
D004041 Dietary Fats Dietary Fats results in increased expression of EXT1 mRNAincreases expression 18042831
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EXT1 mRNAaffects cotreatment|increases expression 17942748
C008493 methylselenic acid methylselenic acid results in increased expression of EXT1 mRNAincreases expression 18548127
C041786 palm oil palm oil results in decreased expression of EXT1 mRNAdecreases expression 18042831
C041786 palm oil palm oil results in increased expression of EXT1 mRNAincreases expression 18042831
C010327 salinomycin salinomycin results in decreased expression of EXT1 mRNAdecreases expression 19682730
D012643 Selenium [Selenium co-treated with Vitamin E] results in increased expression of EXT1 mRNAaffects cotreatment|increases expression 19244175
C017947 sodium arsenite sodium arsenite results in increased expression of EXT1 mRNAincreases expression 12634122
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EXT1 mRNAaffects cotreatment|increases expression 17942748
D014810 Vitamin E [Selenium co-treated with Vitamin E] results in increased expression of EXT1 mRNAaffects cotreatment|increases expression 19244175
D014810 Vitamin E Vitamin E results in increased expression of EXT1 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9611752688 15322242 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.0817505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.2420127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.2414692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.706695378
MESH:D018248 Adenoma, Liver Cell dicyclanil 10.8917162532
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.8916835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.8315276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.0417306315 16712894
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D000799 Angioedema Acetaminophen 3.9810982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1819183758
MESH:D001161 Arteriosclerosis Dietary Fats 10.2615238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 10.2611256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7115885639
MESH:D001321 Autistic Disorder marker/mechanism 12032595
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8115746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9917474063 20146248
MESH:D001943 Breast Neoplasms Dietary Fats 1.9920435547
MESH:D001943 Breast Neoplasms salinomycin 1.9919682730
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9920435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.0316050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8616835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.783084413
MESH:D006528 Carcinoma, Hepatocellular dicyclanil 4.7817162532
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 4.7817306315 16507464 15276417
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.6720419170
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 4.6718572023
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4118670907 18850075 16120746
MESH:D002386 Cataract Acetaminophen 2.6310977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 6.9120889678
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 6.9120056578 19524636
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2316835633
MESH:D002779 Cholestasis Ethinyl Estradiol 2.9317681005 16105132 17333356 16919318 17110522 15861022 11677210
MESH:D002813 Chondrosarcoma marker/mechanism
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1316354765 8697196 12621046 15340226 15668235
MESH:D003092 Colitis Selenium 3.8817936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5010048152 15322242 20055451
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5019769572
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.2711287661 11743745 19085960 19370779 15968718 16485898 12705907 17562736 16177239 12594235 17906064 19420014 14725611 18713872 12958197 11529661 16109766 19416960 16227642 16393943 18071297 10774834 11834606 19164858 11461765 12392966 16081117 14550746 10915739 11739529 16781746 10663392 14986274 12540782 19739265 12153990 17522070 19923254 15619225 11421492 2444490
MESH:D056486 Drug-Induced Liver Injury Selenium 6.2715131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.2720420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2319426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8211462148
MESH:D050171 Dyslipidemias Dietary Fats 3.5118367378
MESH:C538011 Eales disease Vitamin E 4.849068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4612711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0415322242 18230668 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.2812538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.109294722 10568697
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.4120426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4116530937
MESH:D005097 Exostoses, Multiple Hereditary marker/mechanism 20080592
OMIM:133700 EXOSTOSES, MULTIPLE, TYPE I marker/mechanism
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver Dietary Fats 7.9919004024 17967931 18296743 19551842
MESH:D005234 Fatty Liver Ethinyl Estradiol 7.9915345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005355 Fibrosis Dietary Fats 8.9718296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.9720067830
MESH:D005756 Gastritis Acetaminophen 3.8116983495
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.8016452187
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 11.3420471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 11.3411294989 10048152
MESH:D006330 Heart Defects, Congenital Vitamin E 11.3416080930
MESH:D006333 Heart Failure Selenium 3.1217162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0015340226 12621046 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7316490937 16863852
MESH:D006689 Hodgkin Disease sodium arsenite 3.2212676792
MESH:D019584 Hot Flashes Vitamin E 4.1114716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1816959395 15340226 18606429 8697196 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.7616870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.6721332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.7021332399
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9318670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9116945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 6.8217937319
MESH:D007248 Infertility, Male sodium arsenite 6.8212646999 15346721
MESH:D007249 Inflammation Dietary Fats 5.0520412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.0512878042 12200463
MESH:D007251 Influenza, Human Selenium 11.4116624496
MESH:D007251 Influenza, Human Vitamin E 11.4116624496
MESH:D007333 Insulin Resistance Dietary Fats 3.1511836018 18457598
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007674 Kidney Diseases Acetaminophen 10.3315629191 12587719
MESH:D007674 Kidney Diseases sodium arsenite 10.3320008137
MESH:D007674 Kidney Diseases Vitamin E 10.3312488133
MESH:D007676 Kidney Failure, Chronic Selenium 3.9716518626
MESH:D008103 Liver Cirrhosis Dietary Fats 2.9218296743
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3612878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.3616169303
MESH:D008107 Liver Diseases Acetaminophen 1.6516611625 12587719 12969438 11587558 19784758 16610002 19460945 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3117185352 16871587
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 10.9920195826 21137059
MESH:D008113 Liver Neoplasms dicyclanil 10.9920118626
MESH:D008113 Liver Neoplasms sodium arsenite 10.9916712894 15276417
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.9916984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1512151625
MESH:D008171 Lung Diseases sodium arsenite 7.6219095001
MESH:D008171 Lung Diseases Vitamin E 7.6216863852
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 4.9020464547 18520028 17053015 18569708 20135361 18816296 20064080 20869020 6695378
MESH:D008175 Lung Neoplasms sodium arsenite 4.9016712894 15276417 17306315 17077188 19931552
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.9019555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 4.9011062179
MESH:D008325 Mammary Neoplasms, Experimental salinomycin 6.6319682730
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.6315318939
MESH:D008545 Melanoma sodium arsenite 2.0416487513 19082730
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6719513568
MESH:D008654 Mesothelioma Selenium 2.8215107826
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2516381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D009369 Neoplasms Benzo(a)pyrene 5.1511141357
MESH:D009369 Neoplasms sodium arsenite 5.1511559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.7720056578
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3114600291
MESH:D009436 Neural Tube Defects sodium arsenite 3.1912854658
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9418514411
MESH:D009765 Obesity Dietary Fats 2.3019632207 17217161 18674790 11836018 20132043 16723640 20518802 18457598 21332399
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.4617306315 15276417
MESH:D010146 Pain Acetaminophen 2.4616870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.7711578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D010954 Plasmacytoma Selenium 5.0215087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3111222880 11399792 11896295 11118676
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.0917292933
MESH:D011471 Prostatic Neoplasms methylselenic acid 2.0916205645
MESH:D011471 Prostatic Neoplasms sodium arsenite 2.0916039940
MESH:D011471 Prostatic Neoplasms Vitamin E 2.0915084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.4316919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012871 Skin Diseases Vitamin E 2.4618709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 9.6119755658 10029692
MESH:D012878 Skin Neoplasms sodium arsenite 9.6119524636 18572023
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.6116192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.0816709447
MESH:D016135 Spinal Dysraphism sodium arsenite 3.8612854658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D020521 Stroke Vitamin E 3.5816517955
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7111994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.1517053015
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 5.1516712894 11723127 17306315 16452187
MESH:D014581 Urticaria Acetaminophen 3.0610982225
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.8411813266
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.3914692618
MESH:D014652 Vascular Diseases sodium arsenite 4.5417056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6214671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
MESH:D015430 Weight Gain Dietary Fats 3.8116723640
Pathway ID Pathway Name
KEGG:00534 Glycosaminoglycan biosynthesis - heparan sulfate
KEGG:01100 Metabolic pathways
Pharmacogenomics Knowledge Base Top
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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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