AutismKB 2.0

Annotation Detail for OTX1


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Basic Information Top
Gene Symbol:OTX1 ( FLJ38361,MGC15736 )
Gene Full Name: orthodenticle homeobox 1
Band: 2p15
Quick LinksEntrez ID:5013; OMIM: 600036; Uniprot ID:OTX1_HUMAN; ENSEMBL ID: ENSG00000115507; HGNC ID: 8521
Relate to Another Database: SFARIGene; denovo-db
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen results in increased expression of OTX1 proteinincreases expression 15800402
D001104 Arbutin Arbutin results in decreased expression of OTX1 mRNAdecreases expression 17103032
D000431 Ethanol Ethanol results in decreased expression of OTX1 mRNAdecreases expression 17920746
C011890 kojic acid kojic acid results in increased expression of OTX1 mRNAincreases expression 16595896
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Ethanol 4.5517676605 18926900
MESH:D000138 Acidosis Ethanol 5.1311192467
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 6.0415451040 15451039
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D000853 Anophthalmos Ethanol 5.3815513904
MESH:D001008 Anxiety Disorders Ethanol 4.3311141031
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D002056 Burns Ethanol 5.2116374292
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 3.193084413
MESH:D006528 Carcinoma, Hepatocellular Ethanol 3.1915763234 15289165 18788625
MESH:D006332 Cardiomegaly Ethanol 3.6319332462
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D002971 Cleft Lip Ethanol 3.7615513904
MESH:D002972 Cleft Palate Ethanol 3.3115513904
MESH:D019465 Craniofacial Abnormalities Ethanol 2.3415451039 15451040 19302082 15513904 11198716 11873399 10194807
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.2615619225 12958197 11529661 17522070 16177239 11834606 12594235 16781746 19164858 19416960 14550746 11461765 18713872 11421492 17562736 12705907 10774834 16081117 11743745 10915739 15968718 19739265 16393943 14725611 12540782 18071297 19370779 16227642 19420014 10663392 16485898 11287661 19923254 12153990 2444490 17906064 12392966 14986274 19085960 16109766 11739529
MESH:D056486 Drug-Induced Liver Injury Ethanol 4.2611566570
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004938 Esophageal Neoplasms Ethanol 2.8316704527
MESH:D005234 Fatty Liver Ethanol 4.1619236843 16409862 18620774
MESH:D005235 Fatty Liver, Alcoholic Ethanol 6.3917920746
MESH:D005310 Fetal Alcohol Syndrome Ethanol 5.9316946407 15513904 15451040 10194807
MESH:D005756 Gastritis Acetaminophen 13.6716983495
MESH:D005756 Gastritis Ethanol 13.6715046732
MESH:D006930 Hyperalgesia Acetaminophen 8.9116870215
MESH:D006930 Hyperalgesia Ethanol 8.9118783367
MESH:D007569 Jaw Abnormalities Ethanol 4.8315513904
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D007859 Learning Disorders Ethanol 4.7715451040
MESH:D017880 Limb Deformities, Congenital Ethanol 4.0917676605
MESH:D008103 Liver Cirrhosis Ethanol 3.5615289165
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.7318295389
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 2.3218166357
MESH:D008107 Liver Diseases Acetaminophen 1.7019014921 16610002 12587719 16611625 12969438 11587558 19460945 19784758
MESH:D008108 Liver Diseases, Alcoholic Ethanol 5.2117207112 17347304
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6316871587 17185352
MESH:D008114 Liver Neoplasms, Experimental kojic acid 3.5518544905
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D008569 Memory Disorders Ethanol 4.6918411066 15451040
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D010190 Pancreatic Neoplasms Ethanol 3.0812384795
MESH:D012640 Seizures Ethanol 3.429754883
MESH:D013274 Stomach Neoplasms Ethanol 2.3118456281
MESH:D013276 Stomach Ulcer Ethanol 3.959211565 11906479 17189318 16755016 9562338 17918041
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.659754883
MESH:D014581 Urticaria Acetaminophen 3.4410982225
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