AutismKB 2.0

Annotation Detail for OTC


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:OTC ( MGC129967,MGC129968,MGC138856,OCTD )
Gene Full Name: ornithine carbamoyltransferase
Band: Xp11.4
Quick LinksEntrez ID:5009; OMIM: 300461; Uniprot ID:OTC_HUMAN; ENSEMBL ID: ENSG00000036473; HGNC ID: 8512
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
CITRULBIO-PWYcitrulline biosynthesis
ARGININE-SYN4-PWYarginine biosynthesis IV
PWY-4981proline biosynthesis II (from arginine)
CITRULLINE-DEG-PWYcitrulline degradation
PWY-4984urea cycle
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
Pathway IDPathway Name
P02728Arginine biosynthesis
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of amino acid metabolism
Genetic disorders
H00187Ornithine transcarbamylase deficiency
Desease IDDesease Name
2022Liver cancer
2126Encephalopathies
No data
No data
Desease Name
Ornithine transcarbamylase deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of OTC mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of OTC mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of OTC mRNAaffects expression 17562736
D000082 Acetaminophen Acetaminophen results in increased expression of OTC proteinincreases expression 11752693
D000082 Acetaminophen Acetaminophen results in decreased expression of OTC mRNAdecreases expression 17522070
D000082 Acetaminophen Acetaminophen results in increased expression of OTC proteinincreases expression 16687475
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of OTC proteinaffects expression 20106945
D000638 Amiodarone Amiodarone affects the expression of OTC mRNAaffects expression 19483382
D000641 Ammonia OTC protein affects the metabolism of Ammoniaaffects metabolic processing 16677864
D000643 Ammonium Chloride Ammonium Chloride affects the expression of OTC mRNAaffects expression 16483693
D001553 Benzbromarone Benzbromarone affects the expression of OTC mRNAaffects expression 19483382
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of OTC mRNAaffects expression 15963342
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of OTC mRNAdecreases expression 17522070
D002725 Chloroform Chloroform results in decreased expression of OTC mRNAdecreases expression 17522070
D002994 Clofibrate Clofibrate affects the expression of OTC mRNAaffects expression 19483382
D016572 Cyclosporine Cyclosporine results in decreased expression of OTC mRNAdecreases expression 20106945
D003907 Dexamethasone Dexamethasone results in decreased expression of OTC mRNAdecreases expression 17522070
D004052 Diethylnitrosamine [Phenobarbital co-treated with Diethylnitrosamine] results in decreased expression of OTC proteinaffects cotreatment|decreases expression 20935162
D004918 Erythromycin Estolate Erythromycin Estolate results in decreased expression of OTC mRNAdecreases expression 17522070
D004958 Estradiol Estradiol results in decreased expression of OTC mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of OTC mRNAdecreases expression 17108234
D005001 Ethionine Ethionine affects the expression of OTC mRNAaffects expression 19483382
C067713 lactacystin lactacystin inhibits the reaction [Oxygen results in decreased metabolism of OTC protein]decreases metabolic processing|decreases reaction 11161710
C067713 lactacystin lactacystin results in decreased metabolism of OTC proteindecreases metabolic processing 11161710
D009270 Naloxone Naloxone results in decreased expression of OTC mRNAdecreases expression 17522070
D015058 1-Naphthylisothiocyanate 1-Naphthylisothiocyanate results in decreased expression of OTC mRNAdecreases expression 17522070
D009853 Omeprazole Omeprazole affects the expression of OTC mRNAaffects expression 19483382
D010100 Oxygen lactacystin inhibits the reaction [Oxygen results in decreased metabolism of OTC protein]decreases metabolic processing|decreases reaction 11161710
D010100 Oxygen Oxygen results in decreased metabolism of OTC proteindecreases metabolic processing 11161710
D010269 Paraquat Paraquat results in decreased import of OTC proteindecreases import 11161710
D010269 Paraquat Paraquat results in decreased metabolism of OTC proteindecreases metabolic processing 11161710
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of OTC mRNA]affects reaction|decreases expression 19482888
D010634 Phenobarbital Phenobarbital results in decreased expression of OTC mRNAdecreases expression 19482888
D010634 Phenobarbital [Phenobarbital co-treated with Diethylnitrosamine] results in decreased expression of OTC proteinaffects cotreatment|decreases expression 20935162
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of OTC mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid results in decreased expression of OTC mRNAdecreases expression 20059764
16807375
C006253 pirinixic acid pirinixic acid results in decreased expression of OTC proteindecreases expression 16807375
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in decreased expression of OTC mRNA]decreases expression|increases reaction 20059764
C006253 pirinixic acid pirinixic acid affects the expression of OTC mRNAaffects expression 19483382
C004765 propylene dichloride propylene dichloride results in increased activity of OTC proteinincreases activity 2744274
D011441 Propylthiouracil Propylthiouracil affects the expression of OTC mRNAaffects expression 19483382
D011802 Quinidine Quinidine results in decreased expression of OTC mRNAdecreases expression 17522070
D013974 Thyroxine Thyroxine results in increased expression of OTC mRNAincreases expression 17403546
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of OTC mRNAdecreases expression 16960034
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of OTC mRNAdecreases expression 18796159
16960034
D013752 Tetracycline Tetracycline results in decreased expression of OTC mRNAdecreases expression 17522070
D013806 Theophylline Theophylline results in decreased expression of OTC mRNAdecreases expression 17522070
D013853 Thioacetamide Thioacetamide affects the expression of OTC mRNAaffects expression 19483382
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 7.176195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 7.1715322242 11752688 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.2218287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.6017505938
MESH:D055371 Acute Lung Injury Oxygen 8.1916759491
MESH:D055371 Acute Lung Injury pirinixic acid 8.1918653653
MESH:D000230 Adenocarcinoma Estradiol 3.9111473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 3.9114692618
MESH:D000236 Adenoma Diethylnitrosamine 2.6510737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 22.0519052882 17620307 18056438 19061943 16434500 17162532
MESH:D018248 Adenoma, Liver Cell Phenobarbital 22.0517620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 22.0516434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 22.0516835633
MESH:D000382 Agricultural Workers' Diseases Paraquat 3.4311874814
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.6511748828
MESH:D000743 Anemia, Hemolytic propylene dichloride 5.742744274 4063220
MESH:D000799 Angioedema Acetaminophen 3.5010982225
MESH:D000860 Anoxia Oxygen 4.7120872349
MESH:D001145 Arrhythmias, Cardiac Amiodarone 8.5520041841 18057881 18218290
MESH:D001145 Arrhythmias, Cardiac Quinidine 8.5518057881 18724381
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.1311256880
MESH:D001169 Arthritis, Experimental Dexamethasone 6.6717659584
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 6.6715885639
MESH:D001249 Asthma Theophylline 3.7612113382 9701106
MESH:D050197 Atherosclerosis Oxygen 3.6016391483
MESH:D001281 Atrial Fibrillation Amiodarone 3.6519698954 18651412
MESH:D001321 Autistic Disorder Acetaminophen 1.4518445737
MESH:D001778 Blood Coagulation Disorders Amiodarone 52.2819483382
MESH:D001778 Blood Coagulation Disorders Benzbromarone 52.2819483382
MESH:D001778 Blood Coagulation Disorders Clofibrate 52.2819483382
MESH:D001778 Blood Coagulation Disorders Ethionine 52.2819483382
MESH:D001778 Blood Coagulation Disorders Omeprazole 52.2819483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 52.2819483382
MESH:D001778 Blood Coagulation Disorders Propylthiouracil 52.2819483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 52.2812125929
MESH:D001778 Blood Coagulation Disorders Thioacetamide 52.2819483382
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.4415340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.5515746008
MESH:D001929 Brain Edema Ammonia 5.9319393034 11481608 20217200
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9217474063
MESH:D001943 Breast Neoplasms Estradiol 1.9217289903 19861407 12948864 16675129 14630087 18497071 17018787 17261762
MESH:D001943 Breast Neoplasms Oxygen 1.9217263869
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9220435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.1216111702
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.4510355542 15673190 3786805 15700767 16192424 16227642 16124888 15721981 18705752 16050911 16011737 16097048
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.5316835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 21.6316705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 21.6316705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 21.633084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 21.6312907637 21507988 12619106
MESH:D006528 Carcinoma, Hepatocellular Benzbromarone 21.631701930
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 21.6318788625
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 21.6319394651 16328049 18978308 18210153 16681979 20524982 19519916 17173139 20101231 18393292 16779866 10672840 10737359 17055752 20432363 19171122 19822196 19701751 11831363 19539802 20084675 17138121 20512989 17761372 20514400 16288022 16540662 16935385 20727157 20214788 18785209 20007298 18665156 19208518 19107877 16569478 18971187 19919837 17428255 3084413 17162532 18506893 18494052 19052882 3581430 17978847 16830150 18788625 19383236 21159647 18056438 18691550 20935162 16502159 16878318 16807293 19335982 16698587 19418558
MESH:D006528 Carcinoma, Hepatocellular Estradiol 21.6316924424
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 21.6320007298 1701930 17173139 6705139 20935162
MESH:D006528 Carcinoma, Hepatocellular Thioacetamide 21.6317997003
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 6.4618850075 18670907 16120746
MESH:D006332 Cardiomegaly Thyroxine 6.4618093424
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.7719225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 4.7418974383
MESH:D002386 Cataract Acetaminophen 2.3810977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 18.626135515
MESH:D002471 Cell Transformation, Neoplastic Clofibrate 18.621399818
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 18.6212371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 18.6217174075 21159647 2727394 7505956
MESH:D002471 Cell Transformation, Neoplastic Estradiol 18.6218566989
MESH:D002493 Central Nervous System Diseases Phenobarbital 3.924080065
MESH:D002637 Chest Pain Omeprazole 11.4215447763
MESH:D002637 Chest Pain Theophylline 11.4215238202
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 14.4819052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 14.4816835633
MESH:D018281 Cholangiocarcinoma Thioacetamide 14.4818291259
MESH:D002761 Cholangitis 1-Naphthylisothiocyanate 5.8512912871
MESH:D002779 Cholestasis 1-Naphthylisothiocyanate 17.2218590720 18164287 16629650 19486331 12927374 7624871 15913567 15500046
MESH:D002779 Cholestasis Cyclosporine 17.2219486331
MESH:D002779 Cholestasis Ethinyl Estradiol 17.2216105132 11677210 17681005 15861022 16919318 17333356 17110522
MESH:D002779 Cholestasis pirinixic acid 17.2219176532
MESH:D002780 Cholestasis, Intrahepatic 1-Naphthylisothiocyanate 5.5110220858 19407337
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 1.968697196 15668235 15340226 16354765 12621046
MESH:D003110 Colonic Neoplasms Dexamethasone 2.4415824018
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 2.7814669216 17141729
MESH:D019465 Craniofacial Abnormalities Dexamethasone 2.5017728286
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5015322242 20055451 10048152
MESH:D003490 Cyanosis 2,4-dinitrotoluene 9.7918551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 9.7918551238
MESH:D017449 Dermatitis, Allergic Contact Ammonia 6.6816823706
MESH:D017449 Dermatitis, Allergic Contact Dexamethasone 6.6812438553
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.2718249437
MESH:D003877 Dermatitis, Contact propylene dichloride 5.512527719
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 3.9120387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 3.9117107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.1319279558
MESH:D003967 Diarrhea Dexamethasone 3.387237001
MESH:D004211 Disseminated Intravascular Coagulation propylene dichloride 6.654063220
MESH:D056486 Drug-Induced Liver Injury 1-Naphthylisothiocyanate 34.8520133375 17522070 18289764 7624871
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 34.8518551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 34.8518551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 34.8510663392 11739529 10774834 11461765 19370779 16109766 17562736 19416960 12594235 12705907 16485898 11743745 11421492 12540782 11834606 10915739 19164858 14725611 12392966 17906064 11529661 14986274 16227642 11287661 12153990 18071297 18713872 16781746 16393943 19085960 2444490 19739265 15619225 16081117 19923254 16177239 12958197 15968718 19420014 14550746 17522070
MESH:D056486 Drug-Induced Liver Injury Amiodarone 34.8518218290 15265979
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 34.853786805 3732212 16177239 7179309 19336974 10915739 15968718 11566570 21278145 15998439 19085960 6884620 17522070 10092053 4309450 6623471 7440962 15027814 9327722 2869522 16227642 7120509
MESH:D056486 Drug-Induced Liver Injury Chloroform 34.8517522070 3732212 3104120 6884620 2862719 7440962 6623471 7120509
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 34.8519107877
MESH:D056486 Drug-Induced Liver Injury Erythromycin Estolate 34.8517522070 14998559
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 34.8520420201
MESH:D056486 Drug-Induced Liver Injury Tetracycline 34.8517522070
MESH:D056486 Drug-Induced Liver Injury Thioacetamide 34.8512963478
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 3.7519426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.5111462148
MESH:D004381 Duodenal Ulcer Omeprazole 4.0121218061 17151854 16613094 15991576
MESH:D050171 Dyslipidemias Clofibrate 3.8216707586
MESH:D004417 Dyspnea Oxygen 4.4920016425
MESH:D004421 Dystonia Phenobarbital 3.691851702
MESH:D004485 Eczema Dexamethasone 4.1412438553
MESH:D004487 Edema Dexamethasone 9.7019703484
MESH:D004487 Edema pirinixic acid 9.7012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 9.7011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.5618230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 2.8712538720
MESH:D016889 Endometrial Neoplasms Estradiol 2.7619148513 11473722 18566989
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.739294722 10568697
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 3.783659116
MESH:D004828 Epilepsies, Partial Phenobarbital 3.533922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.7120417680
MESH:D004832 Epilepsy, Absence Naloxone 8.536254150
MESH:D004832 Epilepsy, Absence Phenobarbital 8.536401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 3.927750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 3.683659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 4.7716302075
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.7611564622
MESH:D005218 Fat Necrosis Thioacetamide 5.3716456712
MESH:D005234 Fatty Liver Amiodarone 38.0314986274
MESH:D005234 Fatty Liver Carbon Tetrachloride 38.0319224547 15959796 12795759 16239168 61145 17595544 16045604 12631006
MESH:D005234 Fatty Liver Clofibrate 38.0319224547
MESH:D005234 Fatty Liver Cyclosporine 38.0319224547
MESH:D005234 Fatty Liver Diethylnitrosamine 38.0320387270 21071580
MESH:D005234 Fatty Liver Ethinyl Estradiol 38.0315345470
MESH:D005234 Fatty Liver pirinixic acid 38.0320131406 19236843
MESH:D005234 Fatty Liver Tetracycline 38.0319224547 16917069
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.1211858732
MESH:D005355 Fibrosis Carbon Tetrachloride 12.7918705752
MESH:D005355 Fibrosis Cyclosporine 12.7912639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 12.7920067830
MESH:D005739 Gas Poisoning Oxygen 4.8720016425
MESH:D005756 Gastritis Acetaminophen 3.3316983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 3.888708960
MESH:D005911 Gliosis Paraquat 4.8211124998
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.2510696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.1511294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.3320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.0815720958
MESH:D006461 Hemolysis propylene dichloride 6.111980407
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.0311000095
MESH:D006486 Hemosiderosis propylene dichloride 6.202744274
MESH:D006501 Hepatic Encephalopathy Ammonia 10.3916338762 12420312 20549931
MESH:D006501 Hepatic Encephalopathy Thioacetamide 10.3915929193 17276928 18665440
MESH:D006505 Hepatitis 1-Naphthylisothiocyanate 19.9018590720
MESH:D006505 Hepatitis Carbon Tetrachloride 19.9019900420 19110552
MESH:D006505 Hepatitis propylene dichloride 19.902744274
MESH:D006505 Hepatitis Thioacetamide 19.9016456712
MESH:D006529 Hepatomegaly Amiodarone 17.9415265979
MESH:D006529 Hepatomegaly Phenobarbital 17.9416109766
MESH:D006529 Hepatomegaly pirinixic acid 17.9418467677 16221962 19176532 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 17.9416120746 12621046 15340226
MESH:D006548 Hernia, Diaphragmatic Dexamethasone 2.957520565
MESH:D006558 Herpes Genitalis Estradiol 4.6915709030
MESH:D019584 Hot Flashes Estradiol 3.4117088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.708697196 16959395 15340226 16354765 18606429
MESH:D006930 Hyperalgesia Acetaminophen 2.4416870215
MESH:D022124 Hyperammonemia marker/mechanism 20406775
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 12.3016899240
MESH:D006932 Hyperbilirubinemia propylene dichloride 12.302744274
MESH:D006937 Hypercholesterolemia Amiodarone 3.579751232 8137927
MESH:D006943 Hyperglycemia pirinixic acid 2.8920558911
MESH:D006973 Hypertension Cyclosporine 7.8010903974
MESH:D006973 Hypertension Dexamethasone 7.8017042910
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 7.8018850075 18670907
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 3.7515338365
MESH:D007021 Hypospadias Ethinyl Estradiol 3.4816569931 16945680
MESH:D007037 Hypothyroidism Amiodarone 10.5018020914 17991464
MESH:D007037 Hypothyroidism Propylthiouracil 10.5018031379 8137927
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.1512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 10.1117937319
MESH:D007248 Infertility, Male Paraquat 10.114850670
MESH:D007248 Infertility, Male Theophylline 10.1116988215
MESH:D007249 Inflammation Dexamethasone 7.2911099482 8960868
MESH:D007249 Inflammation Diethylnitrosamine 7.2918785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 7.2912878042 12200463
MESH:D007333 Insulin Resistance Estradiol 6.4616393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 6.4616306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.0316580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.0915604871
MESH:D007674 Kidney Diseases Acetaminophen 8.8212587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 8.828314463 10903974 18776723
MESH:D007674 Kidney Diseases Estradiol 8.8215618244
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 15.4916705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 15.4916705839
MESH:D007680 Kidney Neoplasms Cyclosporine 15.4912371664
MESH:D007680 Kidney Neoplasms Estradiol 15.4915610895
MESH:D016773 Leishmaniasis, Cutaneous Omeprazole 3.8219248655
MESH:D008064 Lipidoses Amiodarone 7.9415342952 17567588
MESH:D008064 Lipidoses propylene dichloride 7.942744274
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 14.3011903743 17174718 21278145 11408273 16239168 16221502 16943688 17334410 17157831
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 14.3018522880 18665156 20032147 18407596 19638242
MESH:D008103 Liver Cirrhosis Phenobarbital 14.3021047994
MESH:D008103 Liver Cirrhosis propylene dichloride 14.302744274
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 8.1117525996 12609069 17766677 17481882 14716833 15925388 16011737 17823541 12958196 14620537 13678700 18420326 17721639 18006644 15959796 12632514 18263696 12389079 18279442 15370692 15876570 15818738 17557913 15338365 16116963 16638106 17565644 17761835 17631135 17708605 12546737 17698563 18376398 18277467 12667390 17805973 17640975 15730626 17714472 17976157 12898905 12649538 18166357 18395095 18205269 14716496 15362042 16033810 17944888 15052691 11481614 14512876 18339082 17900296 15996030 16097048 10355542 14748882 12741479 17869086 12445421 18472332 18251166 17922224 16192424 15931870 14724832 18210741 18187930 16015684 15893842 16136751 18156304 12666154 15650968 18472094 18412020 15673190 15057751 12445418 18395914 16248980 15123356 18054572 18418968 18317297 12586293 18481824 18705752 16027843 20821823 18429990 12632512
MESH:D008106 Liver Cirrhosis, Experimental Dexamethasone 8.1116718785
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 8.1114716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 8.1115474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 8.1112878042
MESH:D008106 Liver Cirrhosis, Experimental Thioacetamide 8.1118416461 11682029 17127702 15078482 12175628 18295389 11481614 16343077 12891558 18031379 10677585 17292413 16511523 11172339 18615449 15474484 16097051 17629604 15334695 16248980 12531686 18032466 18263696 18380797 17355460 15716488 16489207 18458672 15158331 17050028 15288473 15095483 18395095 15316131 15075984 15288472 18606216 16126171 15465738 12557150 15362042 12679928 16098781 12085344 14739098
MESH:D008107 Liver Diseases 1-Naphthylisothiocyanate 14.6117184895
MESH:D008107 Liver Diseases Acetaminophen 14.6111587558 19460945 16610002 19014921 12587719 19784758 16611625 12969438
MESH:D008107 Liver Diseases Carbon Tetrachloride 14.6115830285 16246199 16964402 15720792 17285989
MESH:D008107 Liver Diseases Diethylnitrosamine 14.6117034775
MESH:D008107 Liver Diseases Phenobarbital 14.6119363144
MESH:D008107 Liver Diseases Thioacetamide 14.6118374380 15158337 16337175
MESH:D017093 Liver Failure Carbon Tetrachloride 3.8315123358
MESH:D017114 Liver Failure, Acute Acetaminophen 14.5516871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 14.5514706259 16899240
MESH:D017114 Liver Failure, Acute Thioacetamide 14.5515633222 17276928 12479984 15313186
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 19.817678174
MESH:D008113 Liver Neoplasms Aflatoxin B1 19.812125692 18177683 9163691 15890375
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 19.8119294768
MESH:D008113 Liver Neoplasms Diethylnitrosamine 19.8119256749 20101389 15885732 19638242 20583210 18648771 21047994 20452335 19294768 19812893 9163691 15175105 19642983 16942905 19073162 12771043 20434301 19499222 19551842 19254457 19090486 18644402 21071580 19427195 2862719 18977376 18978307 21278145 2422723 12112319 10737359 19690152 20501860 18754104 19833225 19426721 19850985 20137499 21167192 20118626 19996281 20405173 20492335 19255062
MESH:D008113 Liver Neoplasms Phenobarbital 19.8119482888 8742319 19812893 19073162 21047994 15975961
MESH:D008113 Liver Neoplasms pirinixic acid 19.8120007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 19.8116984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 20.592876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 20.598603461
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 20.5915583823 12014681
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 20.5918079962 21159647 18544905 9362446 18775883 19009564 18253720 16267830 18164116 3124819 19126423 18093689 17942915 2563599 18308698 19519916 17174075 19004024 17854601 18282651 16842330 19539802
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 20.592563599 1399818 18308698 17172636 6150874
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 20.5912151625
MESH:D008133 Long QT Syndrome Amiodarone 7.9211989578 15350150 17391786
MESH:D008133 Long QT Syndrome Quinidine 7.9211989578 15350150
MESH:D008171 Lung Diseases Amiodarone 3.1512587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.1318516814
MESH:D055370 Lung Injury Oxygen 4.1818339021
MESH:D008175 Lung Neoplasms Aflatoxin B1 4.4914755239
MESH:D008175 Lung Neoplasms Dexamethasone 4.4911195469 15824018
MESH:D008175 Lung Neoplasms Diethylnitrosamine 4.4920970405 21163286 20512841 6695378
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.4919555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.3511807958 11408345 16891317 17203775
MESH:D020149 Manganese Poisoning Estradiol 4.1419453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.2419513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.4416801185
MESH:D009101 Multiple Myeloma Dexamethasone 3.2715744524 15867202 16118317
MESH:D009135 Muscular Diseases pirinixic acid 3.1716239165
MESH:D009181 Mycoses Amiodarone 4.5617974566 12754197
MESH:D009190 Myelodysplastic Syndromes Dexamethasone 3.359809623
MESH:D009203 Myocardial Infarction pirinixic acid 2.0019151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.7512213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 7.3916810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 7.3916411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.1317484760
MESH:D009336 Necrosis 2,4-dinitrotoluene 9.2118551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 9.217678174 18551238
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.439029167 3581430
MESH:D009369 Neoplasms pirinixic acid 1.7917405874
MESH:D009389 Neovascularization, Pathologic Estradiol 3.3917289903
MESH:D009395 Nephritis, Interstitial Tetracycline 4.449884423
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.0917954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.0019348381 18481113
MESH:D009410 Nerve Degeneration Paraquat 3.4616893418
MESH:D009421 Nervous System Malformations Estradiol 8.3916427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 8.3914600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 7.2718514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 7.2720387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 4.7720387270
MESH:D052556 Niemann-Pick Disease, Type C Clofibrate 4.619802331
MESH:D009765 Obesity pirinixic acid 1.7320558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 7.9116049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 7.9116049721
MESH:D009845 Oligospermia propylene dichloride 5.852744274
MESH:D020163 Ornithine Carbamoyltransferase Deficiency Disease therapeutic 16677864
OMIM:311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO marker/mechanism
MESH:D010018 Osteomalacia Phenobarbital 4.0217016548
MESH:D010051 Ovarian Neoplasms Estradiol 2.1119401270
MESH:D010146 Pain Acetaminophen 2.1316870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 4.8316540662
MESH:D010190 Pancreatic Neoplasms Phenobarbital 4.8316965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.3711578682
MESH:D010300 Parkinson Disease Paraquat 2.6911181820 16140633 12911755 11124998 11445065 15824117 15451049 16510128
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.1016190885
MESH:D010382 Peliosis Hepatis 1-Naphthylisothiocyanate 12.6320133375
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 12.6312520081
MESH:D010391 Pemphigoid, Bullous Tetracycline 5.0911026799
MESH:D011014 Pneumonia Paraquat 4.1112504350
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.2418163543
MESH:D011230 Precancerous Conditions Cyclosporine 13.6312371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 13.632563599
MESH:D011230 Precancerous Conditions Phenobarbital 13.632563599
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma Dexamethasone 3.3521297632
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 2.8511399792 11118676 11896295 11222880
MESH:D017096 Prion Diseases Tetracycline 5.0710903871
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.5820887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.1916740699
MESH:D011537 Pruritus Ethinyl Estradiol 8.9015861022 16919318
MESH:D011537 Pruritus Naloxone 8.9015861022
MESH:D019310 Pseudolymphoma Phenobarbital 4.1512752131
MESH:D011565 Psoriasis Cyclosporine 2.1116882103
MESH:D029424 Pulmonary Disease, Chronic Obstructive Theophylline 4.8818983928
MESH:D011658 Pulmonary Fibrosis Amiodarone 5.3911597910 12490602 12832656
MESH:D011658 Pulmonary Fibrosis Paraquat 5.3916324872 17997886
MESH:D051437 Renal Insufficiency propylene dichloride 5.744063220
MESH:D015427 Reperfusion Injury pirinixic acid 2.2219058328
MESH:D012128 Respiratory Distress Syndrome, Adult Dexamethasone 13.5118379247 11700416
MESH:D012128 Respiratory Distress Syndrome, Adult Oxygen 13.5118339021 17627322
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 13.5111700416
MESH:D012135 Respiratory Sounds Paraquat 3.7311874814
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.5118990726
MESH:D012162 Retinal Degeneration Paraquat 3.6216458197
MESH:D012640 Seizures 2,4-dinitrotoluene 8.4718551238
MESH:D012640 Seizures 2,6-dinitrotoluene 8.4718551238
MESH:D012640 Seizures Phenobarbital 8.473137016 16876388 4039156 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 4.486407741
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 4.7418724381
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 1.8916192470
MESH:D013088 Spermatocele Ethinyl Estradiol 3.6016709447
MESH:D013272 Stomach Diseases Dexamethasone 9.3115472012
MESH:D013272 Stomach Diseases Omeprazole 9.3118545984
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7518456281
MESH:D013276 Stomach Ulcer Amiodarone 10.4618087811
MESH:D013276 Stomach Ulcer Dexamethasone 10.4615138204
MESH:D013276 Stomach Ulcer Omeprazole 10.4616755016 11906479 18237397 17977527 15991576 10750652
MESH:D013398 Sudden Infant Death Oxygen 5.2012563064
MESH:D013610 Tachycardia Amiodarone 3.9711238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 3.8719225199
MESH:D013921 Thrombocytopenia 1-Naphthylisothiocyanate 4.4620133375
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.3111994571
MESH:D013927 Thrombosis Ethinyl Estradiol 2.8715669648
MESH:D013959 Thyroid Diseases Amiodarone 19.1119731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 19.1112697716
MESH:D013959 Thyroid Diseases Thyroxine 19.1119910387
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 10.587505956
MESH:D013964 Thyroid Neoplasms Phenobarbital 10.581399818
MESH:D013964 Thyroid Neoplasms Propylthiouracil 10.5815710170
MESH:D013971 Thyrotoxicosis Amiodarone 4.5318020914 19584973
MESH:D013978 Tibial Fractures Estradiol 4.3419048282
MESH:D016171 Torsades de Pointes Amiodarone 3.8511989578 17467628
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 4.5516049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 4.5516049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 10.8510091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 10.8510091137
MESH:D014581 Urticaria Acetaminophen 2.6710982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 2.9814692618
MESH:D014605 Uveitis Cyclosporine 10.611336536
MESH:D014605 Uveitis Dexamethasone 10.611336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.2512125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.2414671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 3.9015886252
MESH:D014985 Xerophthalmia Cyclosporine 4.0917120751
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
  • PharmGKB Accession:PA32840
    • No data
    No data
    Releated drug ID Related drug Name
    PA448478l-arginine
    PA451831urea
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00129 - L-Ornithine Dietary supplement;Micronutrient;Non-Essential Amino Acids
    DB00155 - L-Citrulline Dietary supplement;Micronutrient;Non-Essential Amino Acids
    DB02011 - N-(Phosphonoacetyl)-L-Ornithine
    DB03519 - 2-Amino-Pentanoic Acid
    DB04185 - Norvaline
    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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