AutismKB 2.0

Annotation Detail for SETX


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Basic Information Top
Gene Symbol:SETX ( ALS4,AOA2,DKFZp781B151,FLJ12840,FLJ43459,KIAA0625,SCAR1,bA479K20.2 )
Gene Full Name: senataxin
Band: 9q34.13
Quick LinksEntrez ID:23064; OMIM: 608465; Uniprot ID:SETX_HUMAN; ENSEMBL ID: ENSG00000107290; HGNC ID: 445
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Nervous system diseases
Neurodegenerative diseases
H00058Amyotrophic lateral sclerosis
No data
No data
No data
Desease Name
Ataxia-ocular apraxia-2
Amyotrophic lateral sclerosis 4, juvenile
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of SETX mRNAaffects expression 17562736
D006710 Homocysteine Homocysteine results in decreased expression of SETX mRNAdecreases expression 17326132
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in increased expression of SETX mRNAincreases expression 18687144
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of SETX mRNAincreases expression 20504355
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 SETX mRNAdecreases expression 19150397
D016572 Cyclosporine Cyclosporine results in increased expression of SETX mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0420127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.826695378
OMIM:602433 AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE marker/mechanism
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4919183758
MESH:D001321 Autistic Disorder Acetaminophen 2.2418445737
MESH:D001321 Autistic Disorder Homocysteine 2.2416297937 20468076
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0020146248 17474063
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1220419170
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.2620889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.2612371664
MESH:D002779 Cholestasis Cyclosporine 3.1419486331
MESH:D003324 Coronary Artery Disease Homocysteine 3.8416379339
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6512392966 11461765 15968718 19085960 2444490 18071297 12594235 11529661 16393943 14725611 17562736 16781746 16485898 10663392 18713872 16109766 19923254 19739265 10774834 17522070 11739529 11421492 19370779 12705907 11743745 16177239 19164858 12958197 19420014 14986274 15619225 10915739 16081117 11287661 11834606 16227642 14550746 12540782 12153990 19416960 17906064
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5720426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5716530937
MESH:D017889 Exfoliation Syndrome Homocysteine 6.1616504073
MESH:D005234 Fatty Liver Cyclosporine 3.1819224547
MESH:D005355 Fibrosis Cyclosporine 3.5612168785 12639820
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D005901 Glaucoma Homocysteine 5.6416504073
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 7.5520471113
MESH:D006330 Heart Defects, Congenital Homocysteine 7.5519638421
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D020138 Hyperhomocysteinemia Homocysteine 4.9917369066 17292331 18234410
MESH:D006973 Hypertension Cyclosporine 2.1910903974
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Acetaminophen 6.3412587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.348314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0012371664
MESH:D008107 Liver Diseases Acetaminophen 1.6912969438 16610002 19460945 16611625 19014921 12587719 11587558 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5416871587 17185352
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1321137059 20195826
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.4417365036
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.576695378 20464547 17053015 20064080 18520028 18569708 20135361 20869020 18816296
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D008591 Meningomyelocele Homocysteine 5.9516602021
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.2818303189 16166281 16966607
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4316381670
MESH:D009203 Myocardial Infarction Homocysteine 3.8217412321
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3011141357
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5718481113 19348381
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D010300 Parkinson Disease Homocysteine 3.6616275827
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.3110923243
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9217292933
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.1317975199 17365031 17322281 15814490
MESH:D012559 Schizophrenia Homocysteine 3.1316641680
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4919755658 10029692
MESH:C537308 Spinocerebellar ataxia, autosomal recessive 1 marker/mechanism
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2817053015
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
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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