AutismKB 2.0

Annotation Detail for ALDH18A1


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Basic Information Top
Gene Symbol:ALDH18A1 ( GSAS,MGC117316,P5CS,PYCS )
Gene Full Name: aldehyde dehydrogenase 18 family, member A1
Band: 10q24.1
Quick LinksEntrez ID:5832; OMIM: 138250; Uniprot ID:P5CS_HUMAN; ENSEMBL ID: ENSG00000059573; HGNC ID: 9722
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
CITRULBIO-PWYcitrulline biosynthesis
PWY-5004superpathway of citrulline metabolism
Pathway IDPathway Name
hsa00330Arginine and proline metabolism
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of amino acids and derivatives
No data
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No data
Related Diseases/Disorders Top
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Desease Name
Mental retardation, joint hypermobility and skin laxity, with or without metabolic abnormalities
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen results in decreased expression of ALDH18A1 mRNAdecreases expression 11793227
D002110 Caffeine Caffeine results in decreased expression of ALDH18A1 mRNAdecreases expression 11793227
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of ALDH18A1 mRNAaffects cotreatment|affects expression 17602206
D003345 Corticosterone Corticosterone results in decreased expression of ALDH18A1 mRNAdecreases expression 15755911
D016572 Cyclosporine Cyclosporine results in decreased expression of ALDH18A1 mRNAdecreases expression 20106945
D004041 Dietary Fats Dietary Fats results in decreased expression of ALDH18A1 mRNAdecreases expression 18042831
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of ALDH18A1 mRNAaffects cotreatment|affects expression 17602206
D004128 Dimethylnitrosamine Dimethylnitrosamine results in decreased expression of ALDH18A1 mRNAdecreases expression 17547211
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of ALDH18A1 mRNAincreases expression 12072388
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of ALDH18A1 mRNAaffects cotreatment|increases expression 17183730
C041786 palm oil palm oil results in decreased expression of ALDH18A1 mRNAdecreases expression 18042831
D010656 Phenylephrine Phenylephrine results in increased expression of ALDH18A1 mRNAincreases expression 18158353
C006253 pirinixic acid pirinixic acid results in decreased expression of ALDH18A1 mRNAdecreases expression 17426115
C020806 tetrabromobisphenol A tetrabromobisphenol A results in increased expression of ALDH18A1 mRNAincreases expression 18976794
D013853 Thioacetamide Thioacetamide results in decreased expression of ALDH18A1 mRNAdecreases expression 11793227
C066340 tolcapone tolcapone binds to ALDH18A1 proteinaffects binding 19783845
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of ALDH18A1 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.488875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 3.9119490988
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.9417505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.1018653653
MESH:D000230 Adenocarcinoma Dimethylnitrosamine 4.4916033868
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.4914692618
MESH:D000236 Adenoma Diethylnitrosamine 6.926695378 10737359
MESH:D000236 Adenoma Dimethylnitrosamine 6.9219555203
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 10.0716434500 19061943 18056438 19052882 17162532 17620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.0716434500
MESH:D017109 Akathisia, Drug-Induced tolcapone 6.2911080934
MESH:D000544 Alzheimer Disease tolcapone 3.2720150427
MESH:D000550 Amblyopia Valproic Acid 5.2317688650
MESH:D000799 Angioedema Acetaminophen 3.8410982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.5517497229
MESH:D001145 Arrhythmias, Cardiac Phenylephrine 4.0917460149
MESH:D001161 Arteriosclerosis Dietary Fats 9.8615238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 9.8611256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6515885639
MESH:D001321 Autistic Disorder Acetaminophen 1.8518445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8515238991 18775368 17507914 16609825 20603192 18558336 18316065 18940202 18985861 18177632 17688650 18396377 19460635 17157402 19232924
MESH:D001714 Bipolar Disorder Valproic Acid 3.0620046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.1219483382
MESH:D001778 Blood Coagulation Disorders Thioacetamide 9.1219483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.398888407
MESH:D001919 Bradycardia Phenylephrine 4.5415306635
MESH:D001943 Breast Neoplasms Dietary Fats 2.1920435547
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.1917474063
MESH:D002277 Carcinoma Dimethylnitrosamine 4.0019555203
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.593084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 4.5916830150 18691550 17428255 20214788 16540662 20101231 20084675 20514400 16698587 10672840 11831363 17162532 20524982 19052882 19394651 20512989 19383236 16935385 19107877 18494052 19519916 18665156 16807293 20432363 18978308 3084413 18785209 19208518 20935162 18971187 19171122 18788625 17761372 19919837 20007298 16502159 19539802 17055752 16288022 19418558 17978847 20727157 3581430 10737359 18506893 16878318 16779866 18056438 17138121 18210153 19335982 16328049 21159647 16569478 19701751 16681979 17173139 18393292 19822196
MESH:D006528 Carcinoma, Hepatocellular Thioacetamide 4.5917997003
MESH:D002294 Carcinoma, Squamous Cell Dimethylnitrosamine 2.9416033868
MESH:D006332 Cardiomegaly Phenylephrine 3.5211754973 17287366 15728586 17124262 11179087 16170337
MESH:D002386 Cataract Acetaminophen 2.5710977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.5612371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 6.5617174075 2727394 21159647 7505956
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7020734317
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 9.6819052882
MESH:D018281 Cholangiocarcinoma Thioacetamide 9.6818291259
MESH:D002779 Cholestasis Cyclosporine 13.2519486331
MESH:D002779 Cholestasis Ethinyl Estradiol 13.2515861022 17110522 17333356 17681005 16105132 11677210 16919318
MESH:D002779 Cholestasis pirinixic acid 13.2519176532
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.8916575769 17688650 8888407
MESH:D003866 Depressive Disorder tolcapone 4.2911224284 7768276
MESH:D003865 Depressive Disorder, Major tolcapone 4.8810440460
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4118249437
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.1820387270
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 15.2117906064 11529661 19085960 11739529 15968718 14725611 16177239 14550746 10915739 16781746 11287661 12705907 19739265 10663392 11421492 19416960 17522070 12540782 14986274 11461765 17562736 11743745 15619225 18071297 12958197 18713872 19164858 12153990 16485898 10774834 19420014 12594235 16393943 19370779 16081117 16109766 16227642 19923254 2444490 12392966 11834606
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 15.2119107877
MESH:D056486 Drug-Induced Liver Injury Dimethylnitrosamine 15.218172417
MESH:D056486 Drug-Induced Liver Injury Thioacetamide 15.2112963478
MESH:D056486 Drug-Induced Liver Injury tolcapone 15.2119783845 16604736
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 15.2119641884 1733752
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1019426721
MESH:D004409 Dyskinesia, Drug-Induced tolcapone 5.4011455177
MESH:D050171 Dyslipidemias Dietary Fats 3.4418367378
MESH:D004421 Dystonia Valproic Acid 4.031851702
MESH:D004487 Edema pirinixic acid 2.4612083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.1712538720
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.1417275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 3.923922381 16628512
MESH:D004827 Epilepsy Valproic Acid 2.9220417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.576426943 7562514 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.287750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.063659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.1216302075
MESH:D004938 Esophageal Neoplasms Dimethylnitrosamine 2.9017016578
MESH:D054908 Extensively Drug-Resistant Tuberculosis tolcapone 5.9519578428
MESH:D005218 Fat Necrosis Thioacetamide 5.7216456712
MESH:D005234 Fatty Liver Cyclosporine 30.5219224547
MESH:D005234 Fatty Liver Dietary Fats 30.5218296743 19004024 17967931 19551842
MESH:D005234 Fatty Liver Diethylnitrosamine 30.5221071580 20387270
MESH:D005234 Fatty Liver Ethinyl Estradiol 30.5215345470
MESH:D005234 Fatty Liver pirinixic acid 30.5220131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 30.5219224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 4.8916575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.118888407 18558336
MESH:D005355 Fibrosis Cyclosporine 8.6512168785 12639820
MESH:D005355 Fibrosis Dietary Fats 8.6518296743
MESH:D005756 Gastritis Acetaminophen 3.6816983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.218708960
MESH:D006333 Heart Failure pirinixic acid 2.5220558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.4115720958
MESH:D006501 Hepatic Encephalopathy Thioacetamide 4.5518665440 15929193 17276928
MESH:D006505 Hepatitis Caffeine 9.9411394713
MESH:D006505 Hepatitis Thioacetamide 9.9416456712
MESH:D006529 Hepatomegaly pirinixic acid 2.9816221962 19772884 18467677 19176532
MESH:D006849 Hydrocephalus Valproic Acid 4.8617688650
MESH:D006930 Hyperalgesia Acetaminophen 2.6816870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.5721332399
MESH:D006943 Hyperglycemia pirinixic acid 3.1620558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.6021332399
MESH:D006973 Hypertension Cyclosporine 5.3510903974
MESH:D006973 Hypertension Phenylephrine 5.358949925 12717712
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.6116612254
MESH:D006984 Hypertrophy Phenylephrine 4.5318502941 12791704
MESH:D007021 Hypospadias Ethinyl Estradiol 3.8016945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4412013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.4717937319
MESH:D007249 Inflammation Dietary Fats 5.0720412841
MESH:D007249 Inflammation Diethylnitrosamine 5.0718785209
MESH:D007333 Insulin Resistance Dietary Fats 7.2018457598 11836018
MESH:D007333 Insulin Resistance pirinixic acid 7.2016306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.4415604871
MESH:D007674 Kidney Diseases Acetaminophen 5.7512587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 5.758314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 2.7212371664
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1516294345 17596541
MESH:D008103 Liver Cirrhosis Dietary Fats 6.6018296743
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 6.6018407596 18665156 19638242 18522880 20032147
MESH:D008106 Liver Cirrhosis, Experimental Dimethylnitrosamine 3.6216603200 14726149 15339415 16570917 12925901 14568256 15161499 18637143 15366600 17534399 15086199 17724770 15733078 16009107 15842777 15798949 17881167 15744066 16270385 15723089 15591649 15571005 18237412 15793283 12918455 18629640 17640959 15504291 17203207 18567088 18371158 15369754 14659978 14643895 18364076 17201889 17196135 15383259 16169303 15479170 15081153 18672772 17465448 15864749 15298665 18210741 17036385 15942678 15492853 16544323 18095165 17348192 15763062 16042886 17666798 17432682 17719030 17198567 15067225 14709902 16627068 15099470 18239293 15577212 15138612
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.6215474484
MESH:D008106 Liver Cirrhosis, Experimental Thioacetamide 3.6212085344 15362042 12891558 11481614 15316131 18416461 18380797 16098781 15288472 15465738 16511523 15075984 16248980 15288473 15158331 17127702 18032466 12531686 18606216 12175628 16126171 12679928 16343077 18263696 17292413 14739098 18615449 15334695 15716488 15078482 16097051 15474484 17355460 15095483 18031379 11172339 18458672 11682029 10677585 18395095 16489207 17050028 12557150 18295389 17629604
MESH:D008107 Liver Diseases Acetaminophen 6.5319014921 12969438 19460945 16611625 16610002 19784758 11587558 12587719
MESH:D008107 Liver Diseases Diethylnitrosamine 6.5317034775
MESH:D008107 Liver Diseases Thioacetamide 6.5318374380 16337175 15158337
MESH:D017114 Liver Failure, Acute Acetaminophen 16.2517185352 16871587
MESH:D017114 Liver Failure, Acute Dimethylnitrosamine 16.2517457977
MESH:D017114 Liver Failure, Acute Thioacetamide 16.2515313186 17276928 15633222 12479984
MESH:D008113 Liver Neoplasms Clofibric Acid 10.6917602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 10.6919294768 19499222 18644402 12771043 18978307 19426721 19254457 21047994 20101389 19812893 15885732 19690152 18977376 19427195 20434301 20137499 20501860 20452335 15175105 19638242 19850985 12112319 2422723 16942905 18754104 19073162 19551842 21278145 19090486 21071580 18648771 21167192 20118626 19996281 19255062 9163691 19833225 20583210 20405173 10737359 20492335 2862719 19256749 19642983
MESH:D008113 Liver Neoplasms Dimethylnitrosamine 10.6915890375 3113478
MESH:D008113 Liver Neoplasms pirinixic acid 10.6920007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.1721159647 19126423 19539802 18079962 19009564 3124819 18775883 18544905 16267830 18164116 17854601 18253720 19004024 19519916 2563599 18093689 18282651 17174075 17942915 16842330 9362446 18308698
MESH:D008114 Liver Neoplasms, Experimental Dimethylnitrosamine 6.171848544 15603536 6150874
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.2617228818
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.7020970405 6695378 21163286 20512841
MESH:D008175 Lung Neoplasms Dimethylnitrosamine 2.7016061637 19555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Corticosterone 3.6112807724
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5519513568
OMIM:612652 MENTAL RETARDATION, JOINT HYPERMOBILITY, AND SKIN LAXITY, WITH OR WITHOUT METABOLIC ABNORMALITIES marker/mechanism
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.7916801185
MESH:D008881 Migraine Disorders Valproic Acid 3.1718803445 18765137
MESH:D009135 Muscular Diseases pirinixic acid 3.4916239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.018888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.1417596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1319151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9316411023
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.569029167 3581430
MESH:D009369 Neoplasms pirinixic acid 1.9417405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.4417954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2719348381 18481113
MESH:D009436 Neural Tube Defects Valproic Acid 3.1116359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.1218514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.1220387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.1220387270
MESH:D009765 Obesity Dietary Fats 4.4218674790 21332399 19632207 11836018 20518802 17217161 20132043 18457598 16723640
MESH:D009765 Obesity pirinixic acid 4.4220558911
MESH:D010146 Pain Acetaminophen 2.3716870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4116540662
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6711578682
MESH:D010300 Parkinson Disease tolcapone 3.5920334432 1977408 9754991 8635184 11793426 9708959 11746615 11586115 17089403 9305320 18328768 16758261 9333106 19783845 19578428 11432539 20216409 9591521 7566641 10651109 8739811
MESH:D011230 Precancerous Conditions Cyclosporine 8.8812371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 8.882563599
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 3.8220603192
MESH:D011537 Pruritus Ethinyl Estradiol 3.3015861022 16919318
MESH:D019310 Pseudolymphoma Valproic Acid 4.5411422049 12752131
MESH:D011565 Psoriasis Cyclosporine 2.2216882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.3819058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.1619155313
MESH:D012559 Schizophrenia Valproic Acid 2.0715737665 19110320
MESH:D012640 Seizures Valproic Acid 2.7216876388 3137016 11738929 15475178 14763951 1511512 17978042 11044598
MESH:D012852 Sinusitis Phenylephrine 4.697327846
MESH:D012893 Sleep Disorders Caffeine 5.3119395429
MESH:D007319 Sleep Initiation and Maintenance Disorders Caffeine 5.1017225163
MESH:D013088 Spermatocele Ethinyl Estradiol 3.9416709447
MESH:D016135 Spinal Dysraphism Valproic Acid 3.7619490988
MESH:D013158 Splenic Diseases Dimethylnitrosamine 5.2712587719
MESH:D013226 Status Epilepticus Valproic Acid 4.5412833885
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.6618456281
MESH:D013274 Stomach Neoplasms Dimethylnitrosamine 2.6616033868
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.1315669648
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 2.977505956
MESH:D014178 Translocation, Genetic Valproic Acid 5.2317262798
MESH:D018088 Tuberculosis, Multidrug-Resistant tolcapone 5.9519578428
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.513119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.638888407
MESH:D014581 Urticaria Acetaminophen 2.9610982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.2814692618
MESH:D014605 Uveitis Cyclosporine 3.981336536
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5215869587 14671159
MESH:D014820 Vitiligo tolcapone 5.1710573327
MESH:D015430 Weight Gain Dietary Fats 3.7216723640
MESH:D014985 Xerophthalmia Cyclosporine 4.4417120751
Pathway ID Pathway Name
KEGG:00330 Arginine and proline metabolism
KEGG:01100 Metabolic pathways
REACT:13 Metabolism of amino acids and derivatives
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00142 - L-Glutamic Acid Dietary supplement;Micronutrient;Non-Essential Amino Acids
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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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