AutismKB 2.0

Annotation Detail for EXTL1


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Basic Information Top
Gene Symbol:EXTL1 ( EXTL,MGC70794 )
Gene Full Name: exostoses (multiple)-like 1
Band: 1p36.11
Quick LinksEntrez ID:2134; OMIM: 601738; Uniprot ID:EXTL1_HUMAN; ENSEMBL ID: ENSG00000158008; HGNC ID: 3515
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
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of EXTL1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of EXTL1 mRNAaffects expression 17562736
D004041 Dietary Fats Dietary Fats results in increased expression of EXTL1 mRNAincreases expression 18042831
C041786 palm oil palm oil results in increased expression of EXTL1 mRNAincreases expression 18042831
C004648 testosterone enanthate testosterone enanthate affects the expression of EXTL1 mRNAaffects expression 17440010
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001161 Arteriosclerosis Dietary Fats 4.3715238619
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001943 Breast Neoplasms Dietary Fats 2.2520435547
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 2.9516705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.953084413
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.5018551238
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 3.9918551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.9918713872 16227642 15619225 11421492 2444490 19739265 12153990 15968718 10774834 12594235 10663392 19164858 14550746 19085960 16485898 11834606 17562736 18071297 19923254 10915739 19370779 17906064 16393943 16109766 12540782 14986274 12392966 11287661 14725611 17522070 16781746 11461765 12705907 19416960 11739529 16081117 11529661 12958197 11743745 19420014 16177239
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D050171 Dyslipidemias Dietary Fats 3.7018367378
MESH:D005234 Fatty Liver Dietary Fats 3.6118296743 19004024 17967931 19551842
MESH:D005355 Fibrosis Dietary Fats 4.0118296743
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.3617440010
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.9721332399
MESH:D006949 Hyperlipidemias Dietary Fats 4.0221332399
MESH:D007249 Inflammation Dietary Fats 2.5920412841
MESH:D007333 Insulin Resistance Dietary Fats 3.3218457598 11836018
MESH:D007674 Kidney Diseases Acetaminophen 2.3815629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.2816705839
MESH:D008103 Liver Cirrhosis Dietary Fats 3.0518296743
MESH:D008107 Liver Diseases Acetaminophen 1.6919784758 16610002 12969438 12587719 19014921 16611625 19460945 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5817185352 16871587
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.4018551238
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D009765 Obesity Dietary Fats 2.3517217161 18457598 21332399 18674790 20132043 19632207 20518802 11836018 16723640
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.7812819281 16049721
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7618551238
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3916049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.8610091137
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D015430 Weight Gain Dietary Fats 4.0616723640
Pathway ID Pathway Name
KEGG:00534 Glycosaminoglycan biosynthesis - heparan sulfate
KEGG:01100 Metabolic pathways
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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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