AutismKB 2.0

Annotation Detail for PAH


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Basic Information Top
Gene Symbol:PAH ( PH,PKU,PKU1 )
Gene Full Name: phenylalanine hydroxylase
Band: 12q23.2
Quick LinksEntrez ID:5053; OMIM: 612349; Uniprot ID:PH4H_HUMAN; ENSEMBL ID: ENSG00000171759; HGNC ID: 8582
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6134tyrosine biosynthesis IV
PHENYLALANINE-DEG1-PWYphenylalanine degradation I (aerobic)
Pathway IDPathway Name
hsa00360Phenylalanine metabolism
hsa00400Phenylalanine, tyrosine and tryptophan biosynthesis
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of amino acids and derivatives
No data
No data
Pathway IDPathway Name
500782Phenylalanine and tyrosine catabolism
Related Diseases/Disorders Top
Desease IDDesease Name
H00167Phenylketonuria
Inherited disorders of amino acid metabolism
Genetic disorders
Desease IDDesease Name
2126Encephalopathies
Desease Name
METABOLIC
phenylketonuria
No data
Desease Name
Hyperphenylalaninemia, non-PKU mild
Phenylketonuria
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in decreased expression of PAH mRNAdecreases expression 20406850
D000082 Acetaminophen Acetaminophen affects the expression of PAH mRNAaffects expression 17562736
D000082 Acetaminophen Acetaminophen results in increased expression of PAH proteinincreases expression 16538041
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of PAH proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PAH mRNAaffects expression 16483693
D019324 beta-Naphthoflavone beta-Naphthoflavone results in decreased expression of PAH mRNAdecreases expression 19737606
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of PAH mRNAdecreases expression 20106945
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of PAH mRNAdecreases expression 17084009
D002251 Carbon Tetrachloride CYP2E1 gene mutant form inhibits the reaction [Carbon Tetrachloride results in decreased expression of PAH mRNA]decreases expression|decreases reaction 17084009
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased activity of PAH proteindecreases activity 16139311
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of PAH mRNAdecreases expression 16178884
C019304 ciprofibrate ciprofibrate results in decreased expression of PAH mRNAdecreases expression 12771043
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of PAH mRNAaffects cotreatment|affects expression 17602206
D016572 Cyclosporine Cyclosporine results in decreased expression of PAH mRNAdecreases expression 20106945
D004052 Diethylnitrosamine Diethylnitrosamine results in decreased expression of PAH mRNAdecreases expression 12771043
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of PAH mRNAaffects cotreatment|affects expression 17602206
D004958 Estradiol Estradiol results in decreased expression of PAH mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of PAH mRNAdecreases expression 17606305
C011890 kojic acid kojic acid results in decreased expression of PAH mRNAdecreases expression 16595896
C069276 peroxovanadate peroxovanadate inhibits the reaction [Streptozocin results in increased activity of PAH protein]decreases reaction|increases activity 11055810
C069276 peroxovanadate peroxovanadate inhibits the reaction [Streptozocin results in increased expression of PAH mRNA]decreases reaction|increases expression 11055810
C006253 pirinixic acid pirinixic acid results in decreased expression of PAH mRNAdecreases expression 16221962
C006253 pirinixic acid pirinixic acid results in decreased expression of PAH mRNAdecreases expression 17164430
D013311 Streptozocin peroxovanadate inhibits the reaction [Streptozocin results in increased activity of PAH protein]decreases reaction|increases activity 11055810
D013311 Streptozocin peroxovanadate inhibits the reaction [Streptozocin results in increased expression of PAH mRNA]decreases reaction|increases expression 11055810
D013311 Streptozocin Streptozocin results in increased activity of PAH proteinincreases activity 11055810
D013311 Streptozocin Streptozocin results in increased expression of PAH mRNAincreases expression 11055810
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PAH mRNAdecreases expression 16443690
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PAH mRNAdecreases expression 20106945
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin binds to AHR protein] which results in decreased expression of PAH mRNAaffects binding|decreases expression 16214954
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PAH mRNAdecreases expression 18796159
D014212 Tretinoin Tretinoin results in decreased expression of PAH mRNAdecreases expression 18230668
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.7914514962 11752688 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.5018287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.8917505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.0518653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 6.9020127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 6.9011473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 6.9014692618
MESH:D000236 Adenoma Benzo(a)pyrene 10.996695378
MESH:D000236 Adenoma beta-Naphthoflavone 10.9919389873
MESH:D000236 Adenoma Diethylnitrosamine 10.9910737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 16.9316434500 17620307 18056438 19061943 17162532 19052882
MESH:D018248 Adenoma, Liver Cell pirinixic acid 16.9316434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 16.9316835633
MESH:D000505 Alopecia Tretinoin 3.5615955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.8911748828
MESH:D000799 Angioedema Acetaminophen 3.7910982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.0119183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.4011256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.0715885639
MESH:D001169 Arthritis, Experimental Tretinoin 7.0716412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.2516292516
MESH:D001249 Asthma Tretinoin 2.3216456186
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001471 Barrett Esophagus Tretinoin 4.3416935849
MESH:D001778 Blood Coagulation Disorders pirinixic acid 14.9119483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 14.9112125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 14.9116206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.7315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7215746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.3020146248 17474063
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.3017474063
MESH:D001943 Breast Neoplasms Estradiol 2.3017289903 17018787 12948864 17261762 16675129 19861407 18497071 14630087
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.3020435547
MESH:D001943 Breast Neoplasms Tretinoin 2.3016873071 16166294 16443354
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.5316813970
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.4016111702
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.7215721981 18705752 15700767 16097048 16192424 16011737 16227642 10355542 15673190 16124888 16050911 3786805
MESH:D002276 Carcinoid Tumor Streptozocin 5.5516051944
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.7416835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.1016168501
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 13.9416705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 13.943084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 13.9412907637 12619106 21507988
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 13.9418788625
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 13.9420101231 16569478 11831363 17173139 16698587 16328049 18691550 18506893 19107877 20727157 20432363 20214788 18494052 16502159 20084675 19171122 18978308 18210153 18971187 19822196 3581430 17055752 19335982 19539802 19394651 18393292 20514400 21159647 10672840 17761372 17428255 3084413 20512989 20007298 10737359 19208518 16681979 16288022 16807293 16779866 20935162 19701751 16878318 17978847 19418558 16935385 19383236 19052882 18665156 17138121 16540662 17162532 16830150 18788625 18785209 20524982 19519916 19919837 18056438
MESH:D006528 Carcinoma, Hepatocellular Estradiol 13.9416924424
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 13.941917145
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.5020419170
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.5016096774 16051514
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3318850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 7.1010977129
MESH:D002386 Cataract Tretinoin 7.1017460283
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 15.636135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 15.6312371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 15.637505956 17174075 2727394 21159647
MESH:D002471 Cell Transformation, Neoplastic Estradiol 15.6318566989
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.5316129372
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 9.1319052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.1316835633
MESH:D002779 Cholestasis Cyclosporine 13.0519486331
MESH:D002779 Cholestasis Ethinyl Estradiol 13.0516919318 15861022 17681005 17333356 16105132 11677210 17110522
MESH:D002779 Cholestasis pirinixic acid 13.0519176532
MESH:D002822 Choriocarcinoma Tretinoin 5.1016461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 5.6712621046 8697196 15668235 16354765 15340226
MESH:D002972 Cleft Palate Tretinoin 5.679407595
MESH:D003092 Colitis Tretinoin 3.6417035595
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0017141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.4315322242 10048152 20055451
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.438800419 10589399 14991402 17551590 9211117 16925845 9125849 9142499 9224671 9664655
MESH:D003490 Cyanosis 2,6-dinitrotoluene 3.9518551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3918249437
MESH:D003920 Diabetes Mellitus Streptozocin 4.6716285004
MESH:D003921 Diabetes Mellitus, Experimental peroxovanadate 9.6411055810
MESH:D003921 Diabetes Mellitus, Experimental Streptozocin 9.6419496084 12093613 15862027 11055810 12446591 12644472 17874149 19960420 18715473 15298345 16286809 7637645 2177838 8740154 19586609 19298542 16684804 6379147 11260395 1374869 15831366 17442507 12083368 18603373
MESH:D003922 Diabetes Mellitus, Type 1 Streptozocin 3.6118603373
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 7.1320387270
MESH:D003924 Diabetes Mellitus, Type 2 Streptozocin 7.1319647726 19586609
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 7.1317107852
MESH:D058065 Diabetic Cardiomyopathies Streptozocin 5.6616025228
MESH:D003928 Diabetic Nephropathies Estradiol 9.0919279558
MESH:D003928 Diabetic Nephropathies Streptozocin 9.0919682444 19960420
MESH:D003930 Diabetic Retinopathy Streptozocin 5.3617662242
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 11.8018551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 11.8016393943 16081117 11529661 18071297 19923254 11287661 19370779 12705907 12958197 19739265 15619225 10915739 10663392 14725611 19085960 16109766 12540782 16781746 14986274 18713872 16177239 11421492 11834606 17906064 12392966 17522070 10774834 19416960 12594235 11461765 16227642 15968718 17562736 11743745 19164858 19420014 16485898 11739529 14550746 12153990 2444490
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 11.8016227642 10092053 7440962 3732212 21278145 3786805 9327722 6884620 15968718 7120509 16177239 15998439 2869522 10915739 4309450 7179309 19085960 6623471 17522070 11566570 19336974 15027814
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 11.8019107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 11.8020420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0419426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7111462148
MESH:D004487 Edema pirinixic acid 6.3312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.3311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 11.7618230668 15322242 16714409
MESH:D004489 Edema, Cardiac Tretinoin 11.7618230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.1212538720
MESH:D016889 Endometrial Neoplasms Estradiol 7.2719148513 11473722 18566989
MESH:D016889 Endometrial Neoplasms Tretinoin 7.2716569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.9610568697 9294722
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.0616302075
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 1.9916530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 8.6711564622
MESH:D005124 Eye Abnormalities Tretinoin 8.679664655 16938888
MESH:D005234 Fatty Liver Carbon Tetrachloride 23.9817595544 12795759 16045604 12631006 61145 15959796 19224547 16239168
MESH:D005234 Fatty Liver Cyclosporine 23.9819224547
MESH:D005234 Fatty Liver Diethylnitrosamine 23.9820387270 21071580
MESH:D005234 Fatty Liver Ethinyl Estradiol 23.9815345470
MESH:D005234 Fatty Liver pirinixic acid 23.9820131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.3911858732
MESH:D005355 Fibrosis Carbon Tetrachloride 20.6218705752
MESH:D005355 Fibrosis Cyclosporine 20.6212639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 20.6220067830
MESH:D005355 Fibrosis Tretinoin 20.6217994277
MESH:D005756 Gastritis Acetaminophen 3.6216983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.168708960
MESH:D005909 Glioblastoma Tretinoin 2.9617312396
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.5410696789
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.1416096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.1016084493
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 10.8920471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 10.8911294989 10048152
MESH:D006330 Heart Defects, Congenital Tretinoin 10.899664655 14991402
MESH:D006331 Heart Diseases Streptozocin 4.2312093613
MESH:D006333 Heart Failure pirinixic acid 2.5020558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.3615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2711000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.5319900420 19110552
MESH:D006529 Hepatomegaly pirinixic acid 8.0519772884 16221962 18467677 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.0515340226 12621046 16120746
MESH:D006558 Herpes Genitalis Estradiol 4.9815709030
MESH:D019584 Hot Flashes Estradiol 3.7017088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.9915340226 16959395 18606429 8697196 16354765
MESH:D006930 Hyperalgesia Acetaminophen 7.4416870215
MESH:D006930 Hyperalgesia Tretinoin 7.4416870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.4716899240
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.5016778211
MESH:D006943 Hyperglycemia pirinixic acid 3.1220558911
MESH:D006973 Hypertension Cyclosporine 4.8610903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 4.8618670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.0215338365
MESH:D007021 Hypospadias Ethinyl Estradiol 3.7516945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4012013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.4417937319
MESH:D007249 Inflammation Diethylnitrosamine 4.7818785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 4.7812878042 12200463
MESH:D007333 Insulin Resistance Estradiol 7.0516627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 7.0516306350
MESH:D007410 Intestinal Diseases Tretinoin 3.7017994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 9.7316580747
MESH:D007569 Jaw Abnormalities Tretinoin 9.7315992940 17551590
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.3915604871
MESH:D007674 Kidney Diseases Acetaminophen 14.1512587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 14.1510903974 8314463 18776723
MESH:D007674 Kidney Diseases Estradiol 14.1515618244
MESH:D007674 Kidney Diseases Streptozocin 14.1512093613
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 12.0416705839
MESH:D007680 Kidney Neoplasms Cyclosporine 12.0412371664
MESH:D007680 Kidney Neoplasms Estradiol 12.0415610895
MESH:D007938 Leukemia Tretinoin 2.7417143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.6416932348 19285840 16482212
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.0719850784 16294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.1119225113 16788101 17506722 17301526 16766008 17339181 12679006 17361223 9834237 17649720 19035177 19075265 17217047 16823087 16140955 16935935 17368321 17107899 16331271 19029980 15748426 16891316 19642359 17712046 17294898
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.269224671
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 6.4911408273 11903743 17174718 21278145 17334410 16239168 16943688 17157831 16221502
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 6.4918665156 18522880 20032147 18407596 19638242
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 6.6318395914 17481882 18412020 15673190 16116963 17922224 13678700 15370692 18705752 12609069 15057751 17714472 15730626 14716496 12632512 18376398 16192424 16033810 17631135 18054572 18156304 17708605 18187930 12898905 10355542 18472332 17565644 12445418 15123356 18277467 15876570 17698563 18166357 14512876 18279442 15818738 17766677 12389079 15362042 18395095 18205269 16638106 18429990 18251166 16248980 12632514 17525996 18006644 15338365 17869086 12445421 15925388 18481824 17900296 17805973 12666154 12586293 17761835 18418968 16136751 18339082 18420326 17976157 12649538 15893842 17557913 16027843 18472094 17721639 20821823 15650968 16015684 17640975 16097048 12546737 14716833 18263696 11481614 12741479 14748882 15996030 14724832 16011737 17823541 12958196 14620537 18317297 15931870 15052691 15959796 17944888 18210741 12667390
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 6.6314716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 6.6315474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 6.6312878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 6.6318397230 16248980
MESH:D008107 Liver Diseases Acetaminophen 6.3719460945 12969438 12587719 16611625 11587558 16610002 19014921 19784758
MESH:D008107 Liver Diseases Carbon Tetrachloride 6.3716964402 15830285 16246199 15720792 17285989
MESH:D008107 Liver Diseases Diethylnitrosamine 6.3717034775
MESH:D017093 Liver Failure Carbon Tetrachloride 4.1015123358
MESH:D017114 Liver Failure, Acute Acetaminophen 9.2116871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 9.2114706259 16899240
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 34.067678174
MESH:D008113 Liver Neoplasms Aflatoxin B1 34.0618177683 15890375 9163691 2125692
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 34.0620195826 21137059
MESH:D008113 Liver Neoplasms beta-Naphthoflavone 34.0619389873 21295105
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 34.0619294768
MESH:D008113 Liver Neoplasms ciprofibrate 34.0612771043
MESH:D008113 Liver Neoplasms Clofibric Acid 34.0617602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 34.0620492335 19638242 20501860 16942905 10737359 21278145 2862719 18648771 19642983 20452335 2422723 12112319 21167192 19427195 21071580 19254457 19551842 19690152 20118626 18754104 20434301 19812893 15885732 12771043 19850985 19073162 19256749 20101389 19996281 20137499 21047994 19499222 9163691 19426721 19255062 19833225 20583210 15175105 20405173 18977376 18978307 18644402 19090486 19294768
MESH:D008113 Liver Neoplasms pirinixic acid 34.0616377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 34.0616984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 27.666135515 2876784 2876786
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 27.668603461
MESH:D008114 Liver Neoplasms, Experimental beta-Naphthoflavone 27.6618164116
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 27.6615583823 12014681
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 27.6618164116 18079962 16267830 19126423 19009564 18775883 17174075 18544905 17942915 18093689 16842330 9362446 18308698 2563599 19519916 19539802 19004024 21159647 18253720 18282651 17854601 3124819
MESH:D008114 Liver Neoplasms, Experimental kojic acid 27.6618544905
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 27.6612151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 4.7614755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 4.7618816296 20064080 18569708 20464547 17053015 20869020 18520028 20135361 6695378
MESH:D008175 Lung Neoplasms Diethylnitrosamine 4.766695378 21163286 20512841 20970405
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.7611884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.5211807958 11408345 17203775 16891317
MESH:D020149 Manganese Poisoning Estradiol 4.4319453300
MESH:D008527 Medulloblastoma Tretinoin 2.7617453147
MESH:D008545 Melanoma Tretinoin 1.9316752155
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5019513568
MESH:D008591 Meningomyelocele Tretinoin 4.3616940565
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.7316801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.1416381670
MESH:D009135 Muscular Diseases pirinixic acid 3.4416239165
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.0417596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1119151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.9612213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.0816810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.0816411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 3.807678174 18551238
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.549029167 3581430
MESH:D009369 Neoplasms Benzo(a)pyrene 8.0011141357
MESH:D009369 Neoplasms pirinixic acid 8.0017405874
MESH:D009369 Neoplasms Tretinoin 8.0016946489 16594593
MESH:D009389 Neovascularization, Pathologic Estradiol 3.6717289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.3917954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2319348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 15.9616427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 15.9614600291
MESH:D009421 Nervous System Malformations Tretinoin 15.969125849
MESH:D009436 Neural Tube Defects Tretinoin 3.019142499
MESH:D019636 Neurodegenerative Diseases Acetaminophen 7.9918514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 7.9920387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.0620387270
MESH:D009765 Obesity pirinixic acid 1.8020558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.3716049721
MESH:D010051 Ovarian Neoplasms Estradiol 4.7419401270
MESH:D010051 Ovarian Neoplasms Tretinoin 4.7416936753
MESH:D010146 Pain Acetaminophen 6.4016870215
MESH:D010146 Pain Tretinoin 6.4016870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 5.1716540662
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.1715976015
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6211578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.1912520081
OMIM:261600 PHENYLKETONURIA marker/mechanism
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.4918163543
MESH:D011230 Precancerous Conditions Cyclosporine 8.7512371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 8.752563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.1311118676 11896295 11222880 11399792
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.8220887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1317292933
MESH:D011471 Prostatic Neoplasms Estradiol 3.1316740699
MESH:D011507 Proteinuria Tretinoin 3.5416636307
MESH:D011537 Pruritus Ethinyl Estradiol 3.2515861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2116882103
MESH:D011625 Pterygium Tretinoin 4.7316723453
MESH:D015427 Reperfusion Injury pirinixic acid 2.3519058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.7718990726
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.0416116481 16283617
MESH:D012640 Seizures 2,6-dinitrotoluene 2.4918551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 9.2119755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.2116192470
MESH:D012878 Skin Neoplasms Tretinoin 9.2116467112
MESH:D013088 Spermatocele Ethinyl Estradiol 3.8916709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 3.292093021 20155912
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 3.2918456281
MESH:D013274 Stomach Neoplasms Tretinoin 3.2917261132
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.5611994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.0915669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.8512697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.007505956
MESH:D013964 Thyroid Neoplasms Tretinoin 7.0017045167 16026305
MESH:D013978 Tibial Fractures Estradiol 4.6319048282
MESH:D014062 Tongue Neoplasms Tretinoin 3.7316051514
MESH:D014376 Tuberculosis Tretinoin 3.1916040207
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 4.8916049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 4.8917053015
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.2610091137
MESH:D014581 Urticaria Acetaminophen 2.9110982225
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.6216129372
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.2314692618
MESH:D014604 Uveal Neoplasms Tretinoin 4.5516752155
MESH:D014605 Uveitis Cyclosporine 3.931336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.5412125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.4814671159 15869587
MESH:D014820 Vitiligo Tretinoin 3.9916761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.1915886252
MESH:D009396 Wilms Tumor Tretinoin 3.9116287080
MESH:D014985 Xerophthalmia Cyclosporine 4.3917120751
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:13 Metabolism of amino acids and derivatives
KEGG:00360 Phenylalanine metabolism
KEGG:00400 Phenylalanine, tyrosine and tryptophan biosynthesis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA32911
    • No data
    Releated disease ID Related disease Name
    PA445314Phenylketonurias
    Releated drug ID Related drug Name
    PA449780glutathione
    PA450931l-phenylalanine
    PA451822l-tyrosine
    PA161990676tetrahydrobiopterin
    PA161990676tetrahydrobiopterin
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00120 - L-Phenylalanine Dietary supplement;Micronutrient;Essential Amino Acids
    DB00360 cofactor Tetrahydrobiopterin Dietary supplement;Cofactor
    DB00368 antagonist Norepinephrine Vasoconstrictor Agents;Sympathomimetics;Adrenergic alpha-Agonists
    DB00668 antagonist Zorcaine Vasoconstrictor Agents;Sympathomimetics;Adrenergic alpha-Agonists;Mydriatics;Bronchodilator Agents;Adrenergic beta-Agonists;Adrenergic Agonists
    DB02562 - Quinonoid 7,8-Tetrahydrobiopterin
    DB02692 - (6r,1'r,2's)-5,6,7,8 Tetrahydrobiopterin
    DB03673 - Beta(2-Thienyl)Alanine
    DB04400 - 7,8-dihydrobiopterin
    DB04419 - Norleucine
    DB06262 antagonist Droxidopa Vasoconstrictor Agents;Sympathomimetics;Adrenergic alpha-Agonists
    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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