AutismKB 2.0

Annotation Detail for ARX


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Basic Information Top
Gene Symbol:ARX ( CT121,ISSX,MRX29,MRX32,MRX33,MRX36,MRX38,MRX43,MRX54,MRX76,MRX87,MRXS1,PRTS )
Gene Full Name: aristaless related homeobox
Band: Xp21.3
Quick LinksEntrez ID:170302; OMIM: 300382; Uniprot ID:ARX_HUMAN; ENSEMBL ID: ENSG00000004848; HGNC ID: 18060
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Proud syndrome
Epilepsy, myoclonic, with mental retardation and spasticity
Hydranencephaly with abnormal genitalia
Mental retardation, X-linked 29
Epileptic encephalopathy, early infantile, 1
Lissencephaly, X-linked 2
Mental retardation, X-linked 36/43/54
Partington syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of ARX mRNAaffects expression 17562736
D001104 Arbutin Arbutin results in decreased expression of ARX mRNAdecreases expression 17103032
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.9110982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.8310977129
OMIM:300004 CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA marker/mechanism
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6819739265 19164858 11461765 15619225 10915739 19923254 11287661 2444490 17906064 14550746 18713872 11739529 19416960 11743745 18071297 19420014 12153990 11529661 10663392 12540782 16781746 12594235 16109766 16485898 14986274 19370779 12705907 16227642 12392966 11834606 17522070 10774834 16393943 15968718 19085960 12958197 11421492 16081117 14725611 16177239 17562736
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 5.1719426721
OMIM:308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 marker/mechanism
MESH:D005756 Gastritis Acetaminophen 4.7416983495
MESH:D006930 Hyperalgesia Acetaminophen 3.1116870215
MESH:D007674 Kidney Diseases Acetaminophen 2.4415629191 12587719
OMIM:300215 LISSENCEPHALY, X-LINKED, 2 marker/mechanism
MESH:D008107 Liver Diseases Acetaminophen 1.7112969438 11587558 19460945 16611625 19784758 12587719 16610002 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.7416871587 17185352
MESH:D008546 Melanoma, Experimental Acetaminophen 4.3319513568
MESH:D038901 Mental Retardation, X-Linked marker/mechanism
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.3118514411
MESH:D010146 Pain Acetaminophen 2.8216870215
MESH:C536300 Partington X-linked mental retardation syndrome marker/mechanism
MESH:D014581 Urticaria Acetaminophen 3.5810982225
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Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA25024
  • No data
    Releated disease ID Related disease Name
    PA152530805Early Infantile Epileptic Encephalopathy With Suppression-Burst Pattern
    No data
    Drug Bank Top

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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