AutismKB 2.0

Annotation Detail for CPS1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CPS1 ( CPSASE1 )
Gene Full Name: carbamoyl-phosphate synthase 1, mitochondrial
Band: 2q34
Quick LinksEntrez ID:1373; OMIM: 608307; Uniprot ID:CPSM_HUMAN; ENSEMBL ID: ENSG00000021826; HGNC ID: 2323
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-4984urea cycle
PWY-5004superpathway of citrulline metabolism
Pathway IDPathway Name
hsa00250Alanine, aspartate and glutamate metabolism
hsa00910Nitrogen metabolism
hsa00330Arginine and proline metabolism
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of amino acids and derivatives
No data
Pathway IDPathway Name
P02728Arginine biosynthesis
P02740De novo pyrimidine ribonucleotides biosythesis
Pathway IDPathway Name
500783Urea cycle
Related Diseases/Disorders Top
Desease IDDesease Name
H00164Carbamoyl phosphate synthetase I deficiency
Inherited disorders of amino acid metabolism
Genetic disorders
No data
Desease Name
HEMATOLOGICAL
CARDIOVASCULAR
fibrinogen
vascular disease
Homocysteine levels
METABOLIC
pulmonary hypertension
Desease Name
Homocysteine levels
Fibrinogen
Chronic kidney disease
Desease Name
Venoocclusive disease after bone marrow transplantation
Pulmonary hypertension, familial persistent, of the newborn
Carbamoylphosphate synthetase I deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of CPS1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of CPS1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of CPS1 mRNAaffects expression 17562736
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of CPS1 proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CPS1 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of CPS1 mRNAdecreases expression 20106945
C095105 bexarotene bexarotene results in decreased expression of CPS1 mRNAdecreases expression 16648578
C459604 candoxin candoxin results in decreased expression of CPS1 mRNAdecreases expression 16309724
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of CPS1 mRNAincreases expression 17109383
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of CPS1 proteinincreases expression 15650968
17109383
D002251 Carbon Tetrachloride [2-Acetylaminofluorene co-treated with Carbon Tetrachloride] affects the expression of CPS1 proteinaffects cotreatment|affects expression 11813887
D016572 Cyclosporine Cyclosporine results in decreased expression of CPS1 mRNAdecreases expression 20106945
D003687 Dehydroepiandrosterone Dehydroepiandrosterone results in decreased expression of CPS1 mRNAdecreases expression 17823450
D003907 Dexamethasone Dexamethasone results in increased expression of CPS1 proteinincreases expression 12198645
D003907 Dexamethasone Dexamethasone results in increased expression of CPS1 mRNAincreases expression 15965953
D004052 Diethylnitrosamine [Phenobarbital co-treated with Diethylnitrosamine] results in decreased expression of CPS1 proteinaffects cotreatment|decreases expression 20935162
D004958 Estradiol Estradiol results in decreased expression of CPS1 mRNAdecreases expression 20106945
D005047 Etoposide CPS1 protein affects the susceptibility to Etoposideaffects response to substance 16217747
D015073 2-Acetylaminofluorene [2-Acetylaminofluorene co-treated with Carbon Tetrachloride] affects the expression of CPS1 proteinaffects cotreatment|affects expression 11813887
D008727 Methotrexate CPS1 protein affects the susceptibility to Methotrexateaffects response to substance 16217747
D016685 Mitomycin CPS1 protein affects the susceptibility to Mitomycinaffects response to substance 16217747
C023036 perfluorooctanoic acid perfluorooctanoic acid affects the expression of CPS1 mRNAaffects expression 18281256
D010634 Phenobarbital [Phenobarbital co-treated with Diethylnitrosamine] results in decreased expression of CPS1 proteinaffects cotreatment|decreases expression 20935162
C006253 pirinixic acid pirinixic acid results in decreased expression of CPS1 proteindecreases expression 15226431
C006253 pirinixic acid pirinixic acid results in decreased expression of CPS1 mRNAdecreases expression 17164430
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of CPS1 mRNAdecreases expression 20106945
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin binds to AHR protein] which results in decreased expression of CPS1 mRNAaffects binding|decreases expression 16214954
D015032 Zinc Zinc results in increased expression of CPS1 mRNAincreases expression 16870260
C016837 zinc chloride zinc chloride results in increased expression of CPS1 mRNAincreases expression 16870260
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Methotrexate 13.3012039119
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 13.306195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 13.3011752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.3918287403
MESH:D000169 Acrodermatitis Zinc 5.2316889938 17190629 17202136
MESH:D055371 Acute Lung Injury pirinixic acid 2.9618653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.1420127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 4.1411473722
MESH:D000236 Adenoma 2-Acetylaminofluorene 10.6910737359
MESH:D000236 Adenoma Benzo(a)pyrene 10.696695378
MESH:D000236 Adenoma Diethylnitrosamine 10.6910737359 6695378
MESH:D002759 Adenoma, Bile Duct 2-Acetylaminofluorene 5.846705139
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 23.4416434500 17162532 19061943 19052882 18056438 17620307
MESH:D018248 Adenoma, Liver Cell Phenobarbital 23.4417620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 23.4416434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 23.4416835633
MESH:D000309 Adrenal Insufficiency Dehydroepiandrosterone 5.5917302879
MESH:D000544 Alzheimer Disease Zinc 2.7217119284 16325427 16410023 16580781
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.8011748828
MESH:D000755 Anemia, Sickle Cell Zinc 4.7316916123
MESH:D000799 Angioedema Acetaminophen 3.6710982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 3.9019183758
MESH:D001169 Arthritis, Experimental Dexamethasone 3.4317659584
MESH:D001172 Arthritis, Rheumatoid Methotrexate 3.0617286800
MESH:D001249 Asthma Zinc 2.9017085522
MESH:D001321 Autistic Disorder Acetaminophen 1.4318445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 8.2519483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.2512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.6215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.6515746008
MESH:D019046 Bone Marrow Neoplasms Etoposide 4.9914601052
MESH:D001930 Brain Injuries Zinc 4.5217109824
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 3.6620146248 17474063
MESH:D001943 Breast Neoplasms bexarotene 3.6616818667 16344269
MESH:D001943 Breast Neoplasms Diethylnitrosamine 3.6617474063
MESH:D001943 Breast Neoplasms Estradiol 3.6617261762 12948864 19861407 17289903 18497071 14630087 17018787 16675129
MESH:D001943 Breast Neoplasms Etoposide 3.6616322251
MESH:D001943 Breast Neoplasms Methotrexate 3.6616978400
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 3.6620435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.2916111702
MESH:D020165 Carbamoyl-Phosphate Synthase I Deficiency Disease marker/mechanism 8486760 17310273
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.6110355542 15673190 16011737 15721981 3786805 15700767 18705752 16227642 16097048 16192424 16050911 16124888
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.6616835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 19.3716705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 19.3716705839
MESH:D006528 Carcinoma, Hepatocellular 2-Acetylaminofluorene 19.3717761372 3581430 3084413 6705139 10737359
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 19.373084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 19.3721507988 12619106 12907637
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 19.3718788625
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 19.3716502159 19519916 18978308 19052882 20512989 20514400 16328049 18788625 19208518 19171122 16540662 18210153 20727157 16807293 16698587 17428255 16935385 17761372 20214788 19919837 16830150 18393292 16569478 17978847 18494052 19335982 16779866 19394651 11831363 20935162 18056438 17055752 16681979 19539802 18691550 18785209 20007298 3084413 17162532 10672840 20524982 19701751 18665156 18506893 20101231 17173139 10737359 20084675 19418558 16878318 19107877 17138121 19383236 16288022 19822196 3581430 18971187 21159647 20432363
MESH:D006528 Carcinoma, Hepatocellular Estradiol 19.3716924424
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 19.3720935162 20007298 6705139 1701930 17173139
MESH:D002289 Carcinoma, Non-Small-Cell Lung bexarotene 3.1716247446
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.6220419170
MESH:D002294 Carcinoma, Squamous Cell Zinc 4.6216543248
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.2718670907 18850075 16120746
MESH:D002318 Cardiovascular Diseases Zinc 3.5416936243
MESH:D002386 Cataract Acetaminophen 2.4810977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 15.046135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 15.0412371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 15.0417174075 2727394 7505956 21159647
MESH:D002471 Cell Transformation, Neoplastic Estradiol 15.0418566989
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.084080065
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 8.8419052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 8.8416835633
MESH:D002779 Cholestasis Cyclosporine 7.3419486331
MESH:D002779 Cholestasis pirinixic acid 7.3419176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.0315668235 8697196 15340226 16354765 12621046
MESH:D003110 Colonic Neoplasms Dexamethasone 2.4715824018
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 2.9117141729 14669216
MESH:D019465 Craniofacial Abnormalities Dexamethasone 5.3317728286
MESH:D019465 Craniofacial Abnormalities Methotrexate 5.339562676 12039119
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 5.3320055451 10048152 15322242
MESH:D019465 Craniofacial Abnormalities Zinc 5.3319302082
MESH:D003490 Cyanosis 2,4-dinitrotoluene 10.3318551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 10.3318551238
MESH:D003550 Cystic Fibrosis Methotrexate 4.0919747007
MESH:D017449 Dermatitis, Allergic Contact Dexamethasone 3.2412438553
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3518249437
MESH:D003882 Dermatomyositis Methotrexate 4.9620191521
MESH:D003920 Diabetes Mellitus Zinc 4.0616479319
MESH:D003922 Diabetes Mellitus, Type 1 Dehydroepiandrosterone 3.6416616286
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.0820387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.0817107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.2719279558
MESH:D003967 Diarrhea Dexamethasone 3.537237001
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 14.5818551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 14.5821346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 14.5814550746 14986274 11529661 19739265 17906064 15968718 10663392 12958197 11287661 16781746 12540782 19085960 18071297 14725611 12153990 11421492 10915739 19416960 17562736 11461765 11743745 16227642 19164858 11834606 19923254 16177239 16081117 17522070 16393943 12705907 19420014 11739529 18713872 12392966 16109766 10774834 19370779 16485898 12594235 15619225 2444490
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 14.5816177239 19336974 17522070 6884620 15968718 7179309 19085960 2869522 10915739 15027814 4309450 3732212 21278145 10092053 9327722 11566570 7440962 7120509 3786805 15998439 6623471 16227642
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 14.5819107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 14.5820420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 3.9319426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.6311462148
MESH:D004421 Dystonia Phenobarbital 3.841851702
MESH:D004485 Eczema Dexamethasone 4.2912438553
MESH:D004487 Edema Dexamethasone 15.1819703484
MESH:D004487 Edema perfluorooctanoic acid 15.1817259670 12083418
MESH:D004487 Edema pirinixic acid 15.1812083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 15.1811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.7315322242 18230668 16714409
MESH:D016889 Endometrial Neoplasms Estradiol 2.8718566989 19148513 11473722
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.8710568697 9294722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 3.943659116
MESH:D004828 Epilepsies, Partial Phenobarbital 3.703922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.8020417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.406401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.087750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 3.853659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 4.9416302075
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4916530937
MESH:D004938 Esophageal Neoplasms Zinc 4.4916543248
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.8911564622
MESH:D005234 Fatty Liver Carbon Tetrachloride 17.4617595544 19224547 12795759 16239168 15959796 61145 12631006 16045604
MESH:D005234 Fatty Liver Cyclosporine 17.4619224547
MESH:D005234 Fatty Liver Diethylnitrosamine 17.4620387270 21071580
MESH:D005234 Fatty Liver pirinixic acid 17.4619236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.2911858732
MESH:D005355 Fibrosis Carbon Tetrachloride 13.7218705752
MESH:D005355 Fibrosis Cyclosporine 13.7212639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 13.7220067830
MESH:D005756 Gastritis Acetaminophen 10.5916983495
MESH:D005756 Gastritis Zinc 10.5917241300
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.058708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.4210696789
MESH:D006086 Graft vs Host Disease Methotrexate 4.9816518429
MESH:D006130 Growth Disorders Zinc 3.8517217573
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.1520471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.1510048152 11294989
MESH:D006333 Heart Failure pirinixic acid 6.8020558911
MESH:D006333 Heart Failure Zinc 6.8017162251
MESH:D006335 Heart Injuries Zinc 5.6017074742
MESH:D016481 Helicobacter Infections Zinc 4.3717241300
MESH:D006390 Hemangioendothelioma 2-Acetylaminofluorene 5.146705139
MESH:D006394 Hemangiosarcoma 2-Acetylaminofluorene 4.256705139
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.2515720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.1811000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.4319900420 19110552
MESH:D006527 Hepatolenticular Degeneration Zinc 4.5217276780
MESH:D006529 Hepatomegaly perfluorooctanoic acid 19.293609246
MESH:D006529 Hepatomegaly Phenobarbital 19.2916109766
MESH:D006529 Hepatomegaly pirinixic acid 19.2918467677 16221962 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 19.2915340226 12621046 16120746
MESH:D006548 Hernia, Diaphragmatic Dexamethasone 3.017520565
MESH:D006558 Herpes Genitalis Estradiol 4.8615709030
MESH:D006561 Herpes Simplex Etoposide 4.3910809021
MESH:D006689 Hodgkin Disease Etoposide 3.7315147373 18180244 16135485 16200630 17606976
MESH:D019584 Hot Flashes Estradiol 3.5817088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.8715340226 16354765 18606429 16959395 8697196
MESH:D006930 Hyperalgesia Acetaminophen 7.4116870215
MESH:D006930 Hyperalgesia perfluorooctanoic acid 7.4112083418
MESH:D022124 Hyperammonemia marker/mechanism 8486760 17310273
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.3616899240
MESH:D006943 Hyperglycemia pirinixic acid 3.0320558911
MESH:D006973 Hypertension Cyclosporine 8.2110903974
MESH:D006973 Hypertension Dexamethasone 8.2117042910
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 8.2118850075 18670907
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 3.9215338365
MESH:D006976 Hypertension, Pulmonary marker/mechanism
MESH:D007249 Inflammation Dexamethasone 11.2711099482 8960868
MESH:D007249 Inflammation Diethylnitrosamine 11.2718785209
MESH:D007249 Inflammation perfluorooctanoic acid 11.2712083418
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 11.2712878042 12200463
MESH:D007333 Insulin Resistance Estradiol 6.8316627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 6.8316306350
MESH:D007511 Ischemia Zinc 4.4616584753
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.1816580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.2715604871
MESH:D007674 Kidney Diseases Acetaminophen 13.6315629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 13.6318776723 10903974 8314463
MESH:D007674 Kidney Diseases Estradiol 13.6315618244
MESH:D007674 Kidney Diseases Zinc 13.6316960431
MESH:D007676 Kidney Failure, Chronic Zinc 4.2616518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 16.5916705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 16.5916705839
MESH:D007680 Kidney Neoplasms Cyclosporine 16.5912371664
MESH:D007680 Kidney Neoplasms Estradiol 16.5915610895
MESH:D007805 Language Development Disorders Methotrexate 4.949562676
MESH:D007984 Leydig Cell Tumor perfluorooctanoic acid 5.068812269
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 15.0316221502 17157831 11408273 21278145 16239168 17334410 16943688 17174718 11903743
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 15.0318665156 19638242 18522880 18407596 20032147
MESH:D008103 Liver Cirrhosis Methotrexate 15.0314986274
MESH:D008103 Liver Cirrhosis Phenobarbital 15.0321047994
MESH:D008106 Liver Cirrhosis, Experimental marker/mechanism 15650968
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 6.5015925388 15650968 18317297 15959796 12389079 18263696 12445418 14716833 17805973 17721639 17557913 15052691 14716496 10355542 16248980 18279442 17944888 14724832 15338365 17900296 12898905 13678700 20821823 16097048 15370692 18205269 17698563 18418968 15673190 17766677 16015684 12667390 12666154 17525996 12632514 17640975 18472332 12445421 18006644 15893842 18054572 12958196 17869086 15876570 14748882 16011737 18277467 18187930 17481882 17976157 15818738 12609069 14620537 18395095 18472094 18156304 18481824 18420326 18210741 16033810 18166357 12632512 17565644 16192424 16136751 17631135 16116963 18376398 17922224 16027843 18412020 15996030 11481614 18339082 16638106 18251166 14512876 15362042 12546737 12741479 18395914 12586293 15057751 18429990 15730626 17714472 17761835 15123356 15931870 17708605 12649538 17823541 18705752
MESH:D008106 Liver Cirrhosis, Experimental Dexamethasone 6.5016718785
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 6.5014716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 6.5015474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 6.5012878042
MESH:D008107 Liver Diseases Acetaminophen 8.9919460945 12587719 19014921 16611625 12969438 11587558 19784758 16610002
MESH:D008107 Liver Diseases Carbon Tetrachloride 8.9915830285 16964402 16246199 15720792 17285989
MESH:D008107 Liver Diseases Diethylnitrosamine 8.9917034775
MESH:D008107 Liver Diseases Phenobarbital 8.9919363144
MESH:D017093 Liver Failure Carbon Tetrachloride 3.9915123358
MESH:D017114 Liver Failure, Acute Acetaminophen 8.9116871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 8.9114706259 16899240
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 41.917678174
MESH:D008113 Liver Neoplasms 2-Acetylaminofluorene 41.9116273603 10737359 10672840 11376686 18001218 14678523
MESH:D008113 Liver Neoplasms Aflatoxin B1 41.912125692 15890375 9163691 18177683
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 41.9121137059 20195826
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 41.9119294768
MESH:D008113 Liver Neoplasms Dehydroepiandrosterone 41.9118709148
MESH:D008113 Liver Neoplasms Diethylnitrosamine 41.9120434301 20452335 19255062 19426721 15175105 21047994 18977376 18644402 21167192 20405173 20101389 21278145 19294768 19499222 19996281 12112319 19254457 12771043 18648771 18754104 20583210 9163691 19850985 19638242 19073162 20492335 15885732 19256749 2862719 19690152 19427195 10737359 19833225 20137499 16942905 19812893 20501860 18978307 21071580 20118626 19642983 19551842 2422723 19090486
MESH:D008113 Liver Neoplasms Mitomycin 41.9115113037
MESH:D008113 Liver Neoplasms perfluorooctanoic acid 41.9114757943 18709148
MESH:D008113 Liver Neoplasms Phenobarbital 41.9119073162 19812893 19482888 21047994 8742319 15975961
MESH:D008113 Liver Neoplasms pirinixic acid 41.9120007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 41.9116984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 31.482876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental 2-Acetylaminofluorene 31.486150874 1399818 534488
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 31.488603461
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 31.4812014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Dehydroepiandrosterone 31.488603461
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 31.4818093689 19009564 18253720 18544905 18164116 18079962 9362446 16267830 19004024 18775883 19126423 17942915 21159647 19539802 17174075 3124819 2563599 17854601 19519916 18308698 16842330 18282651
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 31.4817172636 1399818 2563599 6150874 18308698
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 31.4812151625
MESH:D017563 Lung Diseases, Interstitial Methotrexate 4.8518516814
MESH:D008175 Lung Neoplasms 2-Acetylaminofluorene 10.3811376686
MESH:D008175 Lung Neoplasms Aflatoxin B1 10.3814755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 10.3818569708 20135361 20064080 20464547 20869020 6695378 18816296 17053015 18520028
MESH:D008175 Lung Neoplasms bexarotene 10.3817849452
MESH:D008175 Lung Neoplasms Dexamethasone 10.3815824018 11195469
MESH:D008175 Lung Neoplasms Diethylnitrosamine 10.3820512841 21163286 6695378 20970405
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 10.3819555203 11884234
MESH:D008223 Lymphoma Etoposide 7.6912854902 12556972
MESH:D008223 Lymphoma Methotrexate 7.6917352296
MESH:D016410 Lymphoma, T-Cell, Cutaneous bexarotene 4.9811161223
MESH:D008325 Mammary Neoplasms, Experimental bexarotene 13.4919196722 19196723 15591091
MESH:D008325 Mammary Neoplasms, Experimental Dehydroepiandrosterone 13.4916457693
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 13.4911408345 11807958 16891317 17203775
MESH:D008325 Mammary Neoplasms, Experimental Zinc 13.4912773700
MESH:D020149 Manganese Poisoning Estradiol 4.3119453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.4019513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.6216801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.0616381670
MESH:D052016 Mucositis Methotrexate 5.1117488658
MESH:D009101 Multiple Myeloma Dexamethasone 3.3815867202 16118317 15744524
MESH:D009135 Muscular Diseases pirinixic acid 3.3416239165
MESH:D009190 Myelodysplastic Syndromes Dexamethasone 3.449809623
MESH:D009203 Myocardial Infarction pirinixic acid 2.0719151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.8812213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 7.8116810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 7.8116411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.3017484760
MESH:D009336 Necrosis 2,4-dinitrotoluene 9.7718551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 9.7718551238 7678174
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.509029167 3581430
MESH:D009369 Neoplasms Benzo(a)pyrene 4.5411141357
MESH:D009369 Neoplasms pirinixic acid 4.5417405874
MESH:D009376 Neoplasms, Hormone-Dependent bexarotene 4.6119196722
MESH:D009389 Neovascularization, Pathologic Estradiol 3.5617289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.2717954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.1418481113 19348381
MESH:D009421 Nervous System Malformations Estradiol 8.9116427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 8.9114600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 7.7118514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 7.7120387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 4.9420387270
MESH:D052556 Niemann-Pick Disease, Type C perfluorooctanoic acid 4.789802331
MESH:D009765 Obesity pirinixic acid 1.7720558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 8.3812819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 8.3816049721
MESH:D010018 Osteomalacia Phenobarbital 4.1917016548
MESH:D015663 Osteoporosis, Postmenopausal Dehydroepiandrosterone 4.8716397352
MESH:D010051 Ovarian Neoplasms Estradiol 2.1719401270
MESH:D010146 Pain Acetaminophen 2.2516870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 11.9116540662
MESH:D010190 Pancreatic Neoplasms Etoposide 11.9119003803
MESH:D010190 Pancreatic Neoplasms Mitomycin 11.9115113037
MESH:D010190 Pancreatic Neoplasms Phenobarbital 11.9116965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.0812520081
MESH:D010547 Persistent Fetal Circulation Syndrome marker/mechanism
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.3918163543
MESH:D011230 Precancerous Conditions Cyclosporine 14.4312371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 14.432563599
MESH:D011230 Precancerous Conditions Phenobarbital 14.432563599
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma Dexamethasone 3.4521297632
MESH:D011225 Pre-Eclampsia Zinc 4.0417114810
MESH:D011297 Prenatal Exposure Delayed Effects perfluorooctanoic acid 9.1017132714
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.1011896295 11118676 11399792 11222880
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.7320887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.1517292933
MESH:D011471 Prostatic Neoplasms Estradiol 2.1516740699
MESH:D011471 Prostatic Neoplasms Etoposide 2.1517172428
MESH:D011471 Prostatic Neoplasms Zinc 2.1512429649 16700911 16517595 16606632
MESH:D019310 Pseudolymphoma Phenobarbital 4.3212752131
MESH:D011565 Psoriasis Cyclosporine 5.7116882103
MESH:D011565 Psoriasis Methotrexate 5.7117410198
MESH:D011668 Pulmonary Veno-Occlusive Disease marker/mechanism
MESH:D051437 Renal Insufficiency Methotrexate 4.5417352296
MESH:D015427 Reperfusion Injury pirinixic acid 2.3019058328
MESH:D012128 Respiratory Distress Syndrome, Adult Dexamethasone 3.8618379247 11700416
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.6718990726
MESH:D012162 Retinal Degeneration Zinc 4.0016584753
MESH:D012512 Sarcoma, Ewing's Etoposide 4.5414601052
MESH:D012640 Seizures 2,4-dinitrotoluene 9.1418551238
MESH:D012640 Seizures 2,6-dinitrotoluene 9.1418551238
MESH:D012640 Seizures Phenobarbital 9.1411442880 16876388 3137016 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 4.656407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.2110029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.2116192470
MESH:D013272 Stomach Diseases Dexamethasone 4.1515472012
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.292093021 20155912
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.2918456281
MESH:D013276 Stomach Ulcer Dexamethasone 3.3415138204
MESH:D013576 Syndactyly Methotrexate 4.879562676
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.7312697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 6.757505956
MESH:D013964 Thyroid Neoplasms Phenobarbital 6.751399818
MESH:D013978 Tibial Fractures Estradiol 4.5119048282
MESH:D014062 Tongue Neoplasms Zinc 4.2516543248
MESH:D056806 Urea Cycle Disorders, Inborn marker/mechanism
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 11.4016049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 11.4016049721
MESH:D001749 Urinary Bladder Neoplasms 2-Acetylaminofluorene 11.4015867355 1399818 15289314
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 11.4017053015
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 11.4110091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 11.4110091137
MESH:D014581 Urticaria Acetaminophen 2.8210982225
MESH:D014605 Uveitis Cyclosporine 11.191336536
MESH:D014605 Uveitis Dexamethasone 11.191336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.4212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.0815886252
MESH:D014985 Xerophthalmia Cyclosporine 4.2717120751
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
KEGG:00910 Nitrogen metabolism
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26840
    • No data
    No data
    Releated drug ID Related drug Name
    PA448478l-arginine
    PA451831urea
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB06775 allosteric modulator Carglumic acid
    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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