AutismKB 2.0

Annotation Detail for ALDH4A1


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Basic Information Top
Gene Symbol:ALDH4A1 ( ALDH4,DKFZp779M035,P5CD,P5CDh )
Gene Full Name: aldehyde dehydrogenase 4 family, member A1
Band: 1p36.13
Quick LinksEntrez ID:8659; OMIM: 606811; Uniprot ID:AL4A1_HUMAN; ENSEMBL ID: ENSG00000159423; HGNC ID: 406
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
HYDROXYPRODEG-PWY4-hydroxyproline degradation I
ARGASEDEG-PWYarginine degradation I (arginase pathway)
PROUT-PWYproline degradation
Pathway IDPathway Name
hsa00250Alanine, aspartate and glutamate metabolism
hsa00330Arginine and proline metabolism
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of amino acids and derivatives
No data
Pathway IDPathway Name
P043725-Hydroxytryptamine degredation
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of amino acid metabolism
H00190Hyperprolinemia
Genetic disorders
No data
No data
No data
Desease Name
Hyperprolinemia, type II
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of ALDH4A1 mRNAincreases expression 16788091
D000082 Acetaminophen Acetaminophen affects the expression of ALDH4A1 mRNAaffects expression 17562736
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of ALDH4A1 proteinaffects expression 20106945
C004984 apocarotenal apocarotenal results in decreased expression of ALDH4A1 mRNAdecreases expression 17034753
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of ALDH4A1 mRNAdecreases expression 20106945
D019207 beta Carotene beta Carotene results in decreased expression of ALDH4A1 mRNAdecreases expression 17034753
C006780 bisphenol A bisphenol A results in decreased expression of ALDH4A1 proteindecreases expression 16603574
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of ALDH4A1 mRNAdecreases expression 15336504
D016572 Cyclosporine Cyclosporine results in decreased expression of ALDH4A1 mRNAdecreases expression 20106945
C049098 diallyl phthalate diallyl phthalate results in decreased expression of ALDH4A1 proteindecreases expression 16603574
D004041 Dietary Fats Dietary Fats results in decreased expression of ALDH4A1 mRNAdecreases expression 18042831
D004958 Estradiol [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of ALDH4A1 mRNAaffects cotreatment|increases expression 19619570
D004958 Estradiol Estradiol results in decreased expression of ALDH4A1 mRNAdecreases expression 19619570
C071834 glycidamide glycidamide results in decreased expression of ALDH4A1 mRNAdecreases expression 17822822
C041786 palm oil palm oil results in decreased expression of ALDH4A1 mRNAdecreases expression 18042831
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of ALDH4A1 mRNAaffects binding|decreases expression|increases activity 19710929
D011794 Quercetin Quercetin results in decreased expression of ALDH4A1 mRNAdecreases expression 16455785
D012643 Selenium Selenium results in increased expression of ALDH4A1 mRNAincreases expression 19244175
D013749 Tetrachlorodibenzodioxin [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of ALDH4A1 mRNAaffects cotreatment|increases expression 19619570
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of ALDH4A1 mRNAdecreases expression 19619570
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.8114514962 11752688 15322242
MESH:D055371 Acute Lung Injury pirinixic acid 3.0818653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.2520127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 4.2511473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.636695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 9.7816434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.7816835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9111748828
MESH:D000743 Anemia, Hemolytic Quercetin 4.2017084956
MESH:D000799 Angioedema Acetaminophen 3.8110982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.0319183758
MESH:D001161 Arteriosclerosis Dietary Fats 3.8515238619
MESH:D001260 Ataxia Telangiectasia Quercetin 4.9415336622
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001327 Autoimmune Diseases Quercetin 4.3719761891
MESH:D001778 Blood Coagulation Disorders pirinixic acid 8.6319483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.6312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.7615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7315746008
MESH:D001862 Bone Resorption bisphenol A 3.8211985600
MESH:D002545 Brain Ischemia beta Carotene 5.0616157235
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.9417474063 20146248
MESH:D001943 Breast Neoplasms bisphenol A 2.9417123778
MESH:D001943 Breast Neoplasms Dietary Fats 2.9420435547
MESH:D001943 Breast Neoplasms Estradiol 2.9417289903 12948864 17018787 14630087 16675129 19861407 17261762 18497071
MESH:D001943 Breast Neoplasms Quercetin 2.9418628248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.9420435547
MESH:D002105 Cadmium Poisoning Quercetin 5.5216962696
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.4316111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.7616835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.523084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 6.5221507988 12907637 12619106
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.5216924424
MESH:D006528 Carcinoma, Hepatocellular Quercetin 6.5219519916 12508355
MESH:D002278 Carcinoma in Situ bisphenol A 4.9517123778
MESH:D021441 Carcinoma, Pancreatic Ductal Quercetin 4.9217234771
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0420419170
MESH:D006332 Cardiomegaly Quercetin 6.7219794523
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 6.7216120746 18850075 18670907
MESH:D002386 Cataract Acetaminophen 2.5510977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.4712371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 6.4718566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D002779 Cholestasis Cyclosporine 7.6519486331
MESH:D002779 Cholestasis pirinixic acid 7.6519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.0815340226 8697196 15668235 12621046 16354765
MESH:D003092 Colitis Selenium 3.7417936198
MESH:D003110 Colonic Neoplasms Quercetin 2.4117191121 19440933 16640504 15741050 19056647 17148506 11134977
MESH:D015179 Colorectal Neoplasms Quercetin 2.1818852136 18095365
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0217141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2520055451 15322242 10048152
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4018249437
MESH:D003921 Diabetes Mellitus, Experimental Quercetin 3.6919496084
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6617107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.3719279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.0719420014 16227642 11743745 11529661 11739529 16781746 18713872 14550746 19164858 14986274 15619225 12153990 12594235 12540782 12392966 19739265 10774834 11834606 11421492 17906064 16393943 10915739 16109766 10663392 16081117 12705907 19923254 11287661 15968718 18071297 19085960 14725611 16177239 11461765 17562736 19416960 12958197 19370779 16485898 2444490 17522070
MESH:D056486 Drug-Induced Liver Injury Selenium 6.0715131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.0720420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7311462148
MESH:D050171 Dyslipidemias Dietary Fats 3.4218367378
MESH:D004487 Edema pirinixic acid 6.4012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.4012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.8716714409 15322242 18230668
MESH:D016889 Endometrial Neoplasms Estradiol 2.9519148513 18566989 11473722
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.9810568697 9294722
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0016530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.9811564622
MESH:D005234 Fatty Liver Cyclosporine 12.8219224547
MESH:D005234 Fatty Liver Dietary Fats 12.8217967931 19004024 18296743 19551842
MESH:D005234 Fatty Liver pirinixic acid 12.8220131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.4211858732
MESH:D005355 Fibrosis Cyclosporine 20.8512639820 12168785
MESH:D005355 Fibrosis Dietary Fats 20.8518296743
MESH:D005355 Fibrosis Quercetin 20.8519474275
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 20.8520067830
MESH:D005756 Gastritis Acetaminophen 3.6516983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.188708960
MESH:D005909 Glioblastoma Quercetin 3.3619804834
MESH:D005910 Glioma Quercetin 3.0417643826
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.5710696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.3720471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.3710048152 11294989
MESH:D006333 Heart Failure pirinixic acid 6.8620558911
MESH:D006333 Heart Failure Selenium 6.8617162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.3915720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2911000095
MESH:D006529 Hepatomegaly pirinixic acid 8.1316221962 18467677 19176532 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.1316120746 12621046 15340226
MESH:D006558 Herpes Genitalis Estradiol 5.0015709030
MESH:D015658 HIV Infections beta Carotene 4.0216960176
MESH:D019584 Hot Flashes Estradiol 3.7217088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.0216354765 18606429 16959395 15340226 8697196
MESH:D006930 Hyperalgesia Acetaminophen 2.6616870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.5521332399
MESH:D006943 Hyperglycemia pirinixic acid 9.1120558911
MESH:D006943 Hyperglycemia Quercetin 9.1111834736 18262572
MESH:D006949 Hyperlipidemias Dietary Fats 3.5721332399
OMIM:239510 HYPERPROLINEMIA, TYPE II marker/mechanism
MESH:D006973 Hypertension Cyclosporine 8.4810903974
MESH:D006973 Hypertension Quercetin 8.4818356687
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 8.4818850075 18670907
MESH:D007249 Inflammation Dietary Fats 4.8420412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 4.8412200463 12878042
MESH:D007251 Influenza, Human Quercetin 10.9716624496
MESH:D007251 Influenza, Human Selenium 10.9716624496
MESH:D007333 Insulin Resistance bisphenol A 17.4016393666
MESH:D007333 Insulin Resistance Dietary Fats 17.4011836018 18457598
MESH:D007333 Insulin Resistance Estradiol 17.4016627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 17.4016306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.2916580747
MESH:D007627 Keloid Quercetin 4.9217086741
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.4115604871
MESH:D007674 Kidney Diseases Acetaminophen 14.2215629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 14.2218776723 10903974 8314463
MESH:D007674 Kidney Diseases Estradiol 14.2215618244
MESH:D007674 Kidney Diseases Quercetin 14.2216962696
MESH:D007676 Kidney Failure, Chronic Selenium 3.8416518626
MESH:D007680 Kidney Neoplasms Cyclosporine 7.1512371664
MESH:D007680 Kidney Neoplasms Estradiol 7.1515610895
MESH:D007938 Leukemia Quercetin 3.1317468513
MESH:D008103 Liver Cirrhosis Dietary Fats 2.8518296743
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 4.8914659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 4.8915474484
MESH:D008106 Liver Cirrhosis, Experimental Quercetin 4.8912741479
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 4.8912878042
MESH:D008107 Liver Diseases Acetaminophen 1.6219460945 16610002 19784758 11587558 12969438 12587719 19014921 16611625
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2016871587 17185352
MESH:D008113 Liver Neoplasms Aflatoxin B1 14.062125692 18177683 9163691 15890375
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 14.0621137059 20195826
MESH:D008113 Liver Neoplasms pirinixic acid 14.0620007298 15890375 16377806
MESH:D008113 Liver Neoplasms Quercetin 14.0618980244
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 14.0616984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 13.978603461
MESH:D008114 Liver Neoplasms, Experimental beta Carotene 13.9717113696
MESH:D008114 Liver Neoplasms, Experimental Quercetin 13.9719519916
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 13.9712151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 6.5514755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 6.5518569708 20464547 20064080 17053015 18816296 20135361 20869020 6695378 18520028
MESH:D008175 Lung Neoplasms beta Carotene 6.5516401635
MESH:D008175 Lung Neoplasms Quercetin 6.5516280456
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 6.5511884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 5.9216891317 17203775 11807958 11408345
MESH:D008325 Mammary Neoplasms, Experimental Selenium 5.9215318939
MESH:D020149 Manganese Poisoning Estradiol 4.4519453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5319513568
MESH:D008654 Mesothelioma Selenium 2.7715107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.7616801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.1516381670
MESH:D009135 Muscular Diseases pirinixic acid 3.4716239165
MESH:D009203 Myocardial Infarction pirinixic acid 5.6719151258
MESH:D009203 Myocardial Infarction Quercetin 5.6719595682
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.9812213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 13.9916810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 13.9916411023
MESH:D015428 Myocardial Reperfusion Injury Quercetin 13.9919207477
MESH:D009369 Neoplasms Benzo(a)pyrene 11.7411141357
MESH:D009369 Neoplasms beta Carotene 11.7417051425
MESH:D009369 Neoplasms pirinixic acid 11.7417405874
MESH:D009369 Neoplasms Quercetin 11.7415185748
MESH:D009389 Neovascularization, Pathologic Estradiol 3.7017289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.4117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2418481113 19348381
MESH:D009421 Nervous System Malformations bisphenol A 16.1316427766 11399458
MESH:D009421 Nervous System Malformations Estradiol 16.1316427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 16.1314600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8318514411
MESH:D020078 Neurogenic Inflammation Quercetin 4.3217929310
MESH:D009765 Obesity Dietary Fats 4.4018674790 21332399 19632207 17217161 20132043 11836018 16723640 20518802 18457598
MESH:D009765 Obesity pirinixic acid 4.4020558911
MESH:D015663 Osteoporosis, Postmenopausal Quercetin 4.1819495926
MESH:D010049 Ovarian Diseases bisphenol A 4.9511985600
MESH:D010051 Ovarian Neoplasms Estradiol 4.9019401270
MESH:D010051 Ovarian Neoplasms Quercetin 4.9019005980
MESH:D010146 Pain Acetaminophen 2.3516870215
MESH:D010190 Pancreatic Neoplasms Quercetin 2.8316965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.2212520081
MESH:D010954 Plasmacytoma Selenium 4.8615087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5218163543
MESH:D011230 Precancerous Conditions Cyclosporine 8.9712371664
MESH:D011230 Precancerous Conditions Quercetin 8.9719056647
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 9.3910548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.3911222880 11118676 11399792 11896295
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 10.4220887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 10.4220887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.0917292933
MESH:D011471 Prostatic Neoplasms bisphenol A 2.0916740699
MESH:D011471 Prostatic Neoplasms Estradiol 2.0916740699
MESH:D011471 Prostatic Neoplasms Quercetin 2.0917292933 14715546
MESH:D011565 Psoriasis Cyclosporine 2.2116882103
MESH:D011629 Puberty, Precocious bisphenol A 4.7510548101
MESH:D015427 Reperfusion Injury pirinixic acid 2.3619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8018990726
MESH:D012554 Schistosomiasis japonica Quercetin 5.5216862918
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 9.2819755658 10029692
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 9.288532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.2816192470
MESH:D013272 Stomach Diseases beta Carotene 5.0617638125
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013276 Stomach Ulcer beta Carotene 4.2212500499
MESH:D019966 Substance-Related Disorders bisphenol A 3.9516684133 16045194
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.8712697716
MESH:D013978 Tibial Fractures Estradiol 4.6619048282
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.1017053015
MESH:D001749 Urinary Bladder Neoplasms Quercetin 5.1016720314
MESH:D014581 Urticaria Acetaminophen 2.9410982225
MESH:D014591 Uterine Diseases bisphenol A 4.9814652134
MESH:D014605 Uveitis Cyclosporine 3.961336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.5712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.2215886252
MESH:D015430 Weight Gain Dietary Fats 3.7016723640
MESH:D014985 Xerophthalmia Cyclosporine 4.4117120751
Pathway ID Pathway Name
KEGG:00250 Alanine, aspartate and glutamate metabolism
KEGG:00330 Arginine and proline metabolism
KEGG:01100 Metabolic pathways
REACT:13 Metabolism of amino acids and derivatives
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24701
    • No data
    No data
    Releated drug ID Related drug Name
    PA451125l-proline
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00157 - NADH Dietary supplement;Micronutrient
    No data
    No data
    No data

    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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