AutismKB 2.0

Annotation Detail for UBA52


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Basic Information Top
Gene Symbol:UBA52 ( CEP52,HUBCEP52,MGC126879,MGC126881,MGC57125,RPL40 )
Gene Full Name: ubiquitin A-52 residue ribosomal protein fusion product 1
Band: 19p13.1-p12
Quick LinksEntrez ID:7311; OMIM: 191321; Uniprot ID:RL40_HUMAN; ENSEMBL ID: ENSG00000221983; HGNC ID: 12458
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03010Ribosome
Pathway IDPathway Name
APC-Cdc20 mediated degradation of Nek2A
Signaling by Wnt
Cell Cycle, Mitotic
DNA Replication
Diabetes pathways
Signalling by NGF
Metabolism of proteins
Apoptosis
Regulation of beta-cell development
DNA Repair
Signaling by EGFR
Influenza Infection
Signaling in Immune system
Gene Expression
Cdc20:Phospho-APC/C mediated degradation of Cyclin A
HIV Infection
3' -UTR-mediated translational regulation
Cell Cycle Checkpoints
Regulation of activated PAK-2p34 by proteasome mediated degradation
No data
No data
Pathway IDPathway Name
500526L13a-mediated translational silencing of Ceruloplasmin expression
Related Diseases/Disorders Top
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 decreased expression of UBA52 mRNAdecreases expression 12958071
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane affects the expression of UBA52 mRNAaffects expression 18648102
D000638 Amiodarone Amiodarone affects the expression of UBA52 mRNAaffects expression 19483382
D000643 Ammonium Chloride Ammonium Chloride affects the expression of UBA52 mRNAaffects expression 16483693
D001553 Benzbromarone Benzbromarone affects the expression of UBA52 mRNAaffects expression 19483382
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of UBA52 mRNAaffects expression 15963342
C099555 CD 437 CD 437 results in decreased expression of UBA52 mRNAdecreases expression 12958071
D002994 Clofibrate Clofibrate affects the expression of UBA52 mRNAaffects expression 19483382
D003024 Clozapine Clozapine results in increased expression of UBA52 mRNAincreases expression 14647396
D005001 Ethionine Ethionine affects the expression of UBA52 mRNAaffects expression 19483382
D005419 Flavonoids Flavonoids results in decreased expression of UBA52 mRNAdecreases expression 18035473
D006220 Haloperidol Haloperidol results in increased expression of UBA52 mRNAincreases expression 14647396
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of UBA52 mRNAaffects cotreatment|increases expression 17183730
D009853 Omeprazole Omeprazole affects the expression of UBA52 mRNAaffects expression 19483382
C006253 pirinixic acid pirinixic acid affects the expression of UBA52 mRNAaffects expression 19483382
D011441 Propylthiouracil Propylthiouracil affects the expression of UBA52 mRNAaffects expression 19483382
D012643 Selenium Selenium results in decreased expression of UBA52 mRNAdecreases expression 19244175
D018038 Sodium Selenite Sodium Selenite results in increased expression of UBA52 mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of UBA52 mRNAdecreases expression 19465110
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of UBA52 proteindecreases expression 16548065
D013853 Thioacetamide Thioacetamide affects the expression of UBA52 mRNAaffects expression 19483382
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of UBA52 mRNAaffects cotreatment|increases expression 17183730
D014810 Vitamin E Vitamin E results in decreased expression of UBA52 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 7.8814514962 11752688 15322242
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 7.888875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 3.8119490988
MESH:D000138 Acidosis Ammonium Chloride 3.4318287403
MESH:D055371 Acute Lung Injury pirinixic acid 2.9918653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.683712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 9.4616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.4616835633
MESH:D000380 Agranulocytosis Clozapine 4.9212649775 14617031 16160616
MESH:D000550 Amblyopia Valproic Acid 5.1017688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.8311748828
MESH:D001008 Anxiety Disorders Valproic Acid 3.4717497229
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.6918057881 18218290 20041841
MESH:D001281 Atrial Fibrillation Amiodarone 3.8018651412 19698954
MESH:D001321 Autistic Disorder Haloperidol 2.3418080171 19368416
MESH:D001321 Autistic Disorder Valproic Acid 2.3415238991 18940202 19232924 18316065 18985861 17157402 18396377 18177632 18558336 17507914 20603192 17688650 19460635 16609825 18775368
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 4.8911289319 1440618
MESH:D001714 Bipolar Disorder Valproic Acid 3.0117594078 20046352
MESH:D001778 Blood Coagulation Disorders Amiodarone 56.0919483382
MESH:D001778 Blood Coagulation Disorders Benzbromarone 56.0919483382
MESH:D001778 Blood Coagulation Disorders Clofibrate 56.0919483382
MESH:D001778 Blood Coagulation Disorders Ethionine 56.0919483382
MESH:D001778 Blood Coagulation Disorders Omeprazole 56.0919483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 56.0919483382
MESH:D001778 Blood Coagulation Disorders Propylthiouracil 56.0919483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 56.0912125929
MESH:D001778 Blood Coagulation Disorders Thioacetamide 56.0919483382
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 7.7415746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 7.748888407
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.7420435547
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 9.5015673190 15721981 16124888 16227642 16097048 10355542 16011737 15700767 16192424 16050911 3786805 18705752
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 9.5016050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.6916835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.477296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Benzbromarone 6.471701930
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 6.4718788625
MESH:D006528 Carcinoma, Hepatocellular Thioacetamide 6.4717997003
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.617296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3018850075 16120746 18670907
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.8519225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 4.9518974383
MESH:D002375 Catalepsy Haloperidol 4.7815215559 1977408
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 6.647505956
MESH:D002471 Cell Transformation, Neoplastic Clofibrate 6.641399818
MESH:D002637 Chest Pain Omeprazole 4.9815447763
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.6620734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.1716835633
MESH:D018281 Cholangiocarcinoma Thioacetamide 9.1718291259
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 7.5219486331 9022650
MESH:D002779 Cholestasis pirinixic acid 7.5219176532
MESH:D019457 Chromosome Breakage Sodium Selenite 4.6215894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.058697196 15668235 12621046 15340226 16354765
MESH:D003072 Cognition Disorders Clozapine 4.8317123785
MESH:D003092 Colitis Selenium 3.6517936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 2.9517141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.6920055451 10048152 15322242
MESH:D019465 Craniofacial Abnormalities Valproic Acid 3.6917688650 16575769 8888407
MESH:D019465 Craniofacial Abnormalities Vitamin E 3.6919769572
MESH:D016757 Death, Sudden, Cardiac Haloperidol 4.7220210726
MESH:D003704 Dementia Haloperidol 4.4611575062
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.6811298694 18759878 8970840 8156756 12868966 11906362 14531868 2524372
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3718249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.372952479 3621924
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.6616285004
MESH:D003924 Diabetes Mellitus, Type 2 Clozapine 4.4016402076
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.4017107852
MESH:D006970 Disorders of Excessive Somnolence Clozapine 5.4315331141
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 21.597440962 6482804 9328219 18648102 16192314 18692083 1440618 18289764 6679447 8291058 11289319 9022650 9653073
MESH:D056486 Drug-Induced Liver Injury Amiodarone 21.5918218290 15265979
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 21.594309450 6623471 16227642 3786805 19336974 11566570 7120509 7179309 16177239 15027814 19085960 15998439 15968718 21278145 9327722 10092053 7440962 10915739 17522070 6884620 3732212 2869522
MESH:D056486 Drug-Induced Liver Injury Selenium 21.5915131321
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 21.5915131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 21.5920420201
MESH:D056486 Drug-Induced Liver Injury Thioacetamide 21.5912963478
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 21.5919641884 1733752
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.6611462148
MESH:D004381 Duodenal Ulcer Omeprazole 4.2016613094 21218061 15991576 17151854
MESH:D050171 Dyslipidemias Clofibrate 8.7816707586
MESH:D050171 Dyslipidemias Clozapine 8.7816402076
MESH:D004421 Dystonia Valproic Acid 3.921851702
MESH:C538011 Eales disease Vitamin E 4.579068938
MESH:D004487 Edema pirinixic acid 6.1412083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.1411000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.7716714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.9110568697 9294722
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.0217275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 3.7916628512 3922381
MESH:D004827 Epilepsy Valproic Acid 2.8720417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.486426943 7562514 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.177750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 3.933659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.083581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.9111564622
MESH:D005218 Fat Necrosis Thioacetamide 5.5916456712
MESH:D005234 Fatty Liver Amiodarone 23.3814986274
MESH:D005234 Fatty Liver Carbon Tetrachloride 23.3812631006 15959796 17595544 16239168 12795759 61145 16045604 19224547
MESH:D005234 Fatty Liver Clofibrate 23.3819224547
MESH:D005234 Fatty Liver pirinixic acid 23.3820131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 23.3814986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.3311858732
MESH:D005315 Fetal Diseases Valproic Acid 4.7616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.008888407 18558336
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 4.896705139
MESH:D005355 Fibrosis Carbon Tetrachloride 8.1618705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.1620067830
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 3.917505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.4710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.3410048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 6.3416080930
MESH:D006333 Heart Failure pirinixic acid 6.6820558911
MESH:D006333 Heart Failure Selenium 6.6817162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2111000095
MESH:D006501 Hepatic Encephalopathy Thioacetamide 4.4515929193 18665440 17276928
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 14.986705139
MESH:D006505 Hepatitis Carbon Tetrachloride 14.9819900420 19110552
MESH:D006505 Hepatitis Thioacetamide 14.9816456712
MESH:D006529 Hepatomegaly Amiodarone 13.6615265979
MESH:D006529 Hepatomegaly pirinixic acid 13.6618467677 19772884 19176532 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 13.6612621046 15340226 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.6616490937 16863852
MESH:D019584 Hot Flashes Vitamin E 3.8414716179
MESH:D006849 Hydrocephalus Valproic Acid 4.7417688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.9215340226 16354765 18606429 16959395 8697196
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.4016899240
MESH:D006937 Hypercholesterolemia Amiodarone 3.759751232 8137927
MESH:D006943 Hyperglycemia pirinixic acid 3.0720558911
MESH:D006948 Hyperkinesis Clozapine 4.7816046005
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 3.8115034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.8618850075 18670907
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 3.9615338365
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.4916612254
MESH:D007037 Hypothyroidism Amiodarone 11.1818020914 17991464
MESH:D007037 Hypothyroidism Propylthiouracil 11.1818031379 8137927
MESH:D007249 Inflammation Flavonoids 4.7717296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 4.7712200463 12878042
MESH:D007251 Influenza, Human Selenium 10.5316624496
MESH:D007251 Influenza, Human Vitamin E 10.5316624496
MESH:D007333 Insulin Resistance pirinixic acid 7.0316306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.0314714311
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 4.899022650 8074119
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.2116580747
MESH:D007674 Kidney Diseases Vitamin E 2.7312488133
MESH:D007676 Kidney Failure, Chronic Selenium 3.7616518626
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 2.866582329
MESH:D016773 Leishmaniasis, Cutaneous Omeprazole 3.9919248655
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1317596541 16294345
MESH:D008064 Lipidoses Amiodarone 7.9015342952 17567588
MESH:D008064 Lipidoses Clozapine 7.9017567588
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.7417174718 16239168 11408273 11903743 16943688 17157831 16221502 17334410 21278145
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.1115034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 6.5615996030 17698563 12445421 17944888 18412020 16011737 15362042 18210741 13678700 18472094 18395914 17714472 12667390 16116963 17640975 18054572 17557913 15052691 18156304 18705752 15818738 14724832 18205269 12445418 15876570 12649538 16192424 18395095 15123356 16033810 17525996 16097048 16027843 16248980 17631135 15893842 12586293 17869086 18418968 15931870 12898905 17900296 10355542 16136751 12958196 18263696 17721639 16638106 18339082 18472332 12546737 18317297 12632512 17481882 18187930 18376398 12741479 14716833 18279442 18251166 18429990 11481614 17766677 17805973 18420326 17708605 20821823 15673190 18166357 18481824 12666154 17823541 14512876 15370692 14748882 14716496 15959796 18277467 15057751 17761835 15925388 17565644 17976157 15730626 16015684 15338365 18006644 14620537 12609069 12632514 15650968 12389079 17922224
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 6.5615474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 6.5612878042
MESH:D008106 Liver Cirrhosis, Experimental Thioacetamide 6.5612557150 18263696 12085344 15095483 16511523 18295389 16097051 17629604 15362042 11682029 15158331 15288473 15465738 15316131 18615449 15334695 15288472 18031379 16489207 16126171 10677585 17050028 12175628 18380797 16343077 17292413 17355460 18458672 12891558 12531686 18606216 15474484 18416461 11481614 15716488 14739098 15078482 16098781 11172339 15075984 18395095 16248980 12679928 18032466 17127702
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 6.5616169303
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.1816246199 17285989 16964402 15720792 15830285
MESH:D008107 Liver Diseases Thioacetamide 4.1818374380 15158337 16337175
MESH:D017093 Liver Failure Carbon Tetrachloride 4.0315123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 9.4216899240 14706259
MESH:D017114 Liver Failure, Acute Thioacetamide 9.4215633222 12479984 17276928 15313186
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.0519294768
MESH:D008113 Liver Neoplasms pirinixic acid 7.0520007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.0516984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 9.31598648 1399818 3712494 6587162
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 9.3115583823 12014681
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 9.3112151625
MESH:D008133 Long QT Syndrome Amiodarone 3.4815350150 17391786 11989578
MESH:D008171 Lung Diseases Amiodarone 7.2212587719
MESH:D008171 Lung Diseases Vitamin E 7.2216863852
MESH:D017563 Lung Diseases, Interstitial Amiodarone 10.8318516814
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 10.8317228818
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2711884234 19555203
MESH:D008175 Lung Neoplasms Vitamin E 2.2711062179
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 3.9314737004
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.6815318939
MESH:D001523 Mental Disorders Clozapine 7.9316856516
MESH:D001523 Mental Disorders Haloperidol 7.9316856516
MESH:D008654 Mesothelioma Selenium 2.7415107826
MESH:D024821 Metabolic Syndrome X Clozapine 4.3019142101
MESH:D008881 Migraine Disorders Valproic Acid 3.1018765137 18803445
MESH:D009135 Muscular Diseases pirinixic acid 3.3816239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 3.918888407
MESH:D009181 Mycoses Amiodarone 4.7717974566 12754197
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.0817596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.0919151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.9112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.8416411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.423581430
MESH:D009369 Neoplasms pirinixic acid 1.8917405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.0914600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 6.976679447
MESH:D009436 Neural Tube Defects Valproic Acid 6.9716359493 8888407
MESH:D052556 Niemann-Pick Disease, Type C Clofibrate 4.819802331
MESH:D009765 Obesity Clozapine 4.5918515891 19142110
MESH:D009765 Obesity pirinixic acid 4.5920558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.306482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 4.893988306
MESH:D010051 Ovarian Neoplasms CD 437 3.2817474084
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.357296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.1212520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.346228378
MESH:D010954 Plasmacytoma Selenium 4.7615087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.4318163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.0311222880 11118676 11399792 11896295
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 9.0320603192
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3918760546
MESH:D011471 Prostatic Neoplasms Vitamin E 3.3915084515
MESH:D019310 Pseudolymphoma Valproic Acid 4.4111422049 12752131
MESH:D011595 Psychomotor Agitation Haloperidol 4.8211575062
MESH:D011618 Psychotic Disorders Clozapine 8.8415331141
MESH:D011618 Psychotic Disorders Haloperidol 8.8411575062
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.8012490602 12832656 11597910
MESH:D015427 Reperfusion Injury pirinixic acid 2.3219058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.7118990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.283692021
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.0519155313
MESH:D012559 Schizophrenia Clozapine 5.6017123785 17726453 17667964 20107430 19369910 20580759 20521326 18855531 20168265 18806925 11151749 20452607 11763009 16141801 20521320
MESH:D012559 Schizophrenia Haloperidol 5.6019369910 20107430 1830565 18513383
MESH:D012559 Schizophrenia Valproic Acid 5.6015737665 19110320
MESH:D012640 Seizures Valproic Acid 2.6516876388 17978042 11044598 15475178 3137016 11738929 14763951 1511512
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 4.9518724381
MESH:D012871 Skin Diseases Vitamin E 2.4118709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 1.9816192470
MESH:D016135 Spinal Dysraphism Valproic Acid 3.6819490988
MESH:D013226 Status Epilepticus Valproic Acid 4.4112833885
MESH:D013272 Stomach Diseases Omeprazole 4.4818545984
MESH:D013276 Stomach Ulcer Amiodarone 7.1818087811
MESH:D013276 Stomach Ulcer Omeprazole 7.1817977527 16755016 11906479 18237397 15991576 10750652
MESH:D020521 Stroke Vitamin E 3.4116517955
MESH:D013610 Tachycardia Amiodarone 4.1611238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 10.1119225199
MESH:D017180 Tachycardia, Ventricular Haloperidol 10.1120210726
MESH:D013959 Thyroid Diseases Amiodarone 11.6219731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 11.6212697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.041399818 6587162 3712494 7505956 6582329
MESH:D013964 Thyroid Neoplasms Propylthiouracil 7.0415710170
MESH:D013971 Thyrotoxicosis Amiodarone 4.7318020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.0611989578 17467628
MESH:D014178 Translocation, Genetic Valproic Acid 5.1017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.393119515
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.248074119
MESH:D001749 Urinary Bladder Neoplasms CD 437 5.2416720286
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.518888407
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.4712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.1215886252
MESH:D015430 Weight Gain Clozapine 4.3620521320 16141801 17502770 20107430 20564506 16402076
MESH:D015431 Weight Loss Clozapine 4.9517933447
Pathway ID Pathway Name
REACT:1762 3' -UTR-mediated translational regulation
REACT:8017 APC-Cdc20 mediated degradation of Nek2A
REACT:578 Apoptosis
REACT:6850 Cdc20:Phospho-APC/C mediated degradation of Cyclin A
REACT:1538 Cell Cycle Checkpoints
REACT:152 Cell Cycle, Mitotic
REACT:24941 Circadian Clock
REACT:24972 Circadian Clock (mouse)
REACT:15380 Diabetes pathways
REACT:216 DNA Repair
REACT:383 DNA Replication
REACT:71 Gene Expression
REACT:6185 HIV Infection
REACT:6167 Influenza Infection
REACT:11123 Membrane Trafficking
REACT:17015 Metabolism of proteins
REACT:21257 Metabolism of RNA
REACT:13505 Proteasome mediated degradation of PAK-2p34
REACT:13698 Regulation of beta-cell development
KEGG:03010 Ribosome
REACT:25177 RNF125 mediated ubiquitination of RIG-I, MDA5 and IPS-1
REACT:9417 Signaling by EGFR
REACT:11045 Signaling by Wnt
REACT:6900 Signaling in Immune system
REACT:11061 Signalling by NGF
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  (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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