AutismKB 2.0

Annotation Detail for ADSL


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Basic Information Top
Gene Symbol:ADSL ( AMPS,ASASE,ASL )
Gene Full Name: adenylosuccinate lyase
Band: 22q13.1
Quick LinksEntrez ID:158; OMIM: 608222; Uniprot ID:PUR8_HUMAN; ENSEMBL ID: ENSG00000100354,ENSG00000239900; HGNC ID: 291
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-841purine nucleotides de novo biosynthesis II
PWY-6124inosine-5'-phosphate biosynthesis II
Pathway IDPathway Name
hsa00250Alanine, aspartate and glutamate metabolism
hsa00230Purine metabolism
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of nucleotides
No data
Pathway IDPathway Name
P02738De novo purine biosynthesis
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00197Adenylosuccinate lyase deficiency
Inherited disorders of nucleotide metabolism
Genetic disorders
Desease IDDesease Name
2124Autistic disorder
2197Metabolism disease
Desease Name
height
DEVELOPMENTAL
No data
Desease Name
Adenylosuccinase deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of ADSL mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of ADSL mRNAaffects expression 21346803
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of ADSL mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of ADSL mRNAaffects expression 17562736
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of ADSL mRNAaffects cotreatment|affects expression 17602206
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of ADSL mRNAaffects cotreatment|affects expression 17602206
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of ADSL mRNAincreases expression 17942748
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of ADSL mRNAaffects cotreatment|increases expression 17183730
C013038 hydroxyhydroquinone hydroxyhydroquinone results in decreased expression of ADSL mRNAdecreases expression 17572062
C006253 pirinixic acid pirinixic acid results in increased expression of ADSL mRNAincreases expression 18301758
D018038 Sodium Selenite Sodium Selenite results in increased expression of ADSL mRNAincreases expression 18175754
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of ADSL mRNAaffects cotreatment|increases expression 17183730
D014635 Valproic Acid Valproic Acid results in decreased expression of ADSL mRNAdecreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 9.237525203
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.238875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0419490988
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1217505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.2318653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8314692618
MESH:D000236 Adenoma Diethylnitrosamine 2.916695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 10.6117620307 16434500 19061943 17162532 19052882 18056438
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.6116434500
MESH:C538235 Adenylosuccinate lyase deficiency marker/mechanism
MESH:D000550 Amblyopia Valproic Acid 5.4117688650
MESH:D000799 Angioedema Acetaminophen 4.0210982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.6617497229
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6011256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7315885639
MESH:D001321 Autistic Disorder marker/mechanism 15471876
MESH:D001321 Autistic Disorder Acetaminophen 1.8518445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8518396377 18940202 17157402 18775368 19232924 18985861 19460635 18177632 17688650 18558336 20603192 16609825 18316065 17507914 15238991
MESH:D001714 Bipolar Disorder Valproic Acid 3.1317594078 20046352
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.2619483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.478888407
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.2217474063
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.6816705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.6816705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.683084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 6.6818978308 16935385 16681979 3084413 18971187 20214788 18056438 20514400 17162532 18210153 18665156 19052882 10737359 19701751 18494052 16569478 18691550 16328049 17055752 20727157 20101231 16502159 19208518 18393292 19107877 16878318 10672840 18788625 19919837 17761372 19383236 19171122 16830150 17428255 20512989 20084675 20432363 11831363 19418558 3581430 21159647 19394651 17138121 20007298 20524982 19335982 17173139 18506893 20935162 19519916 19539802 19822196 16288022 18785209 16698587 16540662 17978847 16779866 16807293
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 7.6314694615
MESH:D002386 Cataract Acetaminophen 7.6310977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.946135515
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 6.947505956 17174075 2727394 21159647
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7420734317
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.7819052882
MESH:D002779 Cholestasis Ethinyl Estradiol 8.0115861022 17110522 16105132 11677210 17681005 17333356 16919318
MESH:D002779 Cholestasis pirinixic acid 8.0119176532
MESH:D019457 Chromosome Breakage Sodium Selenite 4.8915894690
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 4.2615095906
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9017688650 8888407 16575769
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.3618551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.3618551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4718249437
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.8716285004
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2120387270
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 19.1921346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 19.1918551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 19.1921346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 19.1918713872 17522070 11461765 19420014 10663392 16227642 19416960 16177239 18071297 16081117 10915739 2444490 16781746 11834606 11287661 15619225 19739265 16109766 17906064 14986274 12705907 15968718 14725611 19923254 12153990 19164858 11739529 11421492 10774834 12958197 11743745 12594235 14550746 19085960 16485898 17562736 11529661 19370779 16393943 12540782 12392966
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 19.1919107877
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 19.1915131321
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 19.1919641884 1733752
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2719426721
MESH:D004421 Dystonia Valproic Acid 4.171851702
MESH:D004487 Edema pirinixic acid 2.5912083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3112538720
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.2917275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.093922381 16628512
MESH:D004827 Epilepsy Valproic Acid 2.9920417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.686254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.447750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.223659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.2916302075
MESH:D005234 Fatty Liver Diethylnitrosamine 19.7020387270 21071580
MESH:D005234 Fatty Liver Ethinyl Estradiol 19.7015345470
MESH:D005234 Fatty Liver pirinixic acid 19.7020131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 19.7019224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.0616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.268888407 18558336
MESH:D005756 Gastritis Acetaminophen 3.8516983495
MESH:D006333 Heart Failure pirinixic acid 2.6020558911
MESH:D006529 Hepatomegaly pirinixic acid 3.1319176532 18467677 19772884 16221962
MESH:D006849 Hydrocephalus Valproic Acid 5.0217688650
MESH:D006930 Hyperalgesia Acetaminophen 2.7916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.2920558911
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.7616612254
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9516945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5617937319
MESH:D007249 Inflammation Diethylnitrosamine 2.4318785209
MESH:D007333 Insulin Resistance pirinixic acid 7.5416306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.5414714311
MESH:D007674 Kidney Diseases Acetaminophen 2.2612587719 15629191
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 7.6716705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.6716705839
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1717596541 16294345
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.8820032147 18665156 19638242 18522880 18407596
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3415474484
MESH:D008107 Liver Diseases Acetaminophen 3.9919784758 16611625 12587719 12969438 16610002 19460945 11587558 19014921
MESH:D008107 Liver Diseases Diethylnitrosamine 3.9917034775
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3416871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 11.047678174
MESH:D008113 Liver Neoplasms Clofibric Acid 11.0417602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 11.0419812893 16942905 19294768 12112319 18644402 19427195 18977376 20405173 18754104 12771043 19499222 20137499 20452335 21278145 15885732 19426721 19551842 20583210 19996281 19690152 18648771 19073162 21071580 9163691 20434301 19256749 18978307 21047994 19850985 19255062 2422723 10737359 20501860 19833225 15175105 19638242 19642983 20492335 2862719 19254457 20101389 19090486 20118626 21167192
MESH:D008113 Liver Neoplasms pirinixic acid 11.0415890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.152876786 2876784 6135515
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.1518308698 18253720 2563599 18093689 21159647 18282651 16842330 17942915 17174075 3124819 19004024 19519916 9362446 19126423 17854601 18164116 18544905 18775883 19009564 19539802 18079962 16267830
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.4417228818
MESH:D008175 Lung Neoplasms Diethylnitrosamine 1.7620970405 21163286 6695378 20512841
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.1814737004
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7119513568
MESH:D008881 Migraine Disorders Valproic Acid 3.2718765137 18803445
MESH:D009135 Muscular Diseases pirinixic acid 3.6416239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.148888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2117596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1819151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0316411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 10.8718551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 10.877678174 18551238
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.603581430 9029167
MESH:D009369 Neoplasms pirinixic acid 1.9917405874
MESH:D009436 Neural Tube Defects Valproic Acid 3.208888407 16359493
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.4918514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.4920387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.2920387270
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 15.7712819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 15.7716049721
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 15.7714694615
MESH:D010146 Pain Acetaminophen 2.4816870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4516540662
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8011578682
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.652563599
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 3.9820603192
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3818760546
MESH:D011537 Pruritus Ethinyl Estradiol 3.4715861022 16919318
MESH:D019310 Pseudolymphoma Valproic Acid 4.7112752131 11422049
MESH:D015427 Reperfusion Injury pirinixic acid 2.4319058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.2919155313
MESH:D012559 Schizophrenia Valproic Acid 2.0819110320 15737665
MESH:D012640 Seizures 2,4-dinitrotoluene 10.2518551238
MESH:D012640 Seizures 2,6-dinitrotoluene 10.2518551238
MESH:D012640 Seizures Valproic Acid 10.2517978042 16876388 15475178 1511512 11044598 14763951 11738929 3137016
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1216709447
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8619490988
MESH:D013226 Status Epilepticus Valproic Acid 4.7112833885
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2515669648
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.077505956
MESH:D014178 Translocation, Genetic Valproic Acid 5.4117262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.673119515
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.1416049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.1416049721
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.788888407
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.5110091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.5110091137
MESH:D014581 Urticaria Acetaminophen 3.0910982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4214692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6514671159 15869587
Pathway ID Pathway Name
KEGG:00250 Alanine, aspartate and glutamate metabolism
KEGG:01100 Metabolic pathways
REACT:1698 Metabolism of nucleotides
KEGG:00230 Purine metabolism
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24600
    • No data
    No data
    Releated drug ID Related drug Name
    PA449789glycine
    PA10090l-glutamine
    Drug Bank Top

    Simple Query:


      (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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