AutismKB 2.0

Annotation Detail for GCH1


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Basic Information Top
Gene Symbol:GCH1 ( DYT14,DYT5,DYT5a,GCH,GTP-CH-1,GTPCH1,HPABH4B )
Gene Full Name: GTP cyclohydrolase 1
Band: 14q22.2
Quick LinksEntrez ID:2643; OMIM: 600225; Uniprot ID:GCH1_HUMAN; ENSEMBL ID: ENSG00000131979; HGNC ID: 4193
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-5663tetrahydrobiopterin biosynthesis I
PWY-5664tetrahydrobiopterin biosynthesis II
Pathway IDPathway Name
hsa01100Metabolic pathways
hsa00790Folate biosynthesis
No data
No data
Pathway IDPathway Name
P02742Tetrahydrofolate biosynthesis
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00167Phenylketonuria
Inherited disorders of amino acid metabolism
Genetic disorders
Desease IDDesease Name
1709Parkinson disease
1715Myotonic disorder
1918Atherosclerosis
1921Vitamin B deficiency
2045Bipolar disorder
2128CNS metastases
Desease Name
broad range of clinical presentations
No data
Desease Name
Dystonia, DOPA-responsive, with or without hyperphenylalainemia
Hyperpehnylalaninemia, BH4-deficient, B
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of GCH1 mRNAincreases expression 19933214
C017202 2,4-diaminohypoxanthine [2,4-diaminohypoxanthine results in decreased activity of GCH1 protein] which affects the susceptibility to Acetylcholineaffects response to substance|decreases activity 12855421
C017202 2,4-diaminohypoxanthine [2,4-diaminohypoxanthine results in decreased activity of GCH1 protein] which affects the susceptibility to Calcimycinaffects response to substance|decreases activity 12855421
C017202 2,4-diaminohypoxanthine 2,4-diaminohypoxanthine results in decreased expression of GCH1 proteindecreases expression 12855421
C017202 2,4-diaminohypoxanthine sepiapterin inhibits the reaction [[2,4-diaminohypoxanthine results in decreased activity of GCH1 protein] which affects the susceptibility to Calcimycin]affects response to substance|decreases activity|decreases reaction 12855421
C010914 2,4-diaminotoluene 2,4-diaminotoluene results in increased expression of GCH1 mRNAincreases expression 20713471
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of GCH1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of GCH1 mRNAaffects expression 21346803
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in decreased expression of GCH1 mRNAdecreases expression 16788091
C003402 5,6,7,8-tetrahydrobiopterin GCH1 protein results in increased chemical synthesis of 5,6,7,8-tetrahydrobiopterinincreases chemical synthesis 14551046
D000082 Acetaminophen Acetaminophen affects the expression of GCH1 mRNAaffects expression 17562736
D000109 Acetylcholine [2,4-diaminohypoxanthine results in decreased activity of GCH1 protein] which affects the susceptibility to Acetylcholineaffects response to substance|decreases activity 12855421
D000643 Ammonium Chloride Ammonium Chloride affects the expression of GCH1 mRNAaffects expression 16483693
C432165 anthra(1,9-cd)pyrazol-6(2H)-one anthra(1,9-cd)pyrazol-6(2H)-one inhibits the reaction [IL1A protein results in increased expression of GCH1 mRNA]decreases reaction|increases expression 12832416
D000968 Antimycin A Antimycin A results in increased expression of GCH1 mRNAincreases expression 19304788
C002791 bismuth tripotassium dicitrate bismuth tripotassium dicitrate results in increased expression of GCH1 mRNAincreases expression 15912405
C055494 caffeic acid phenethyl ester [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in increased expression of GCH1 mRNAaffects cotreatment|increases expression 20360939
D000001 Calcimycin [2,4-diaminohypoxanthine results in decreased activity of GCH1 protein] which affects the susceptibility to Calcimycinaffects response to substance|decreases activity 12855421
D000001 Calcimycin sepiapterin inhibits the reaction [[2,4-diaminohypoxanthine results in decreased activity of GCH1 protein] which affects the susceptibility to Calcimycin]affects response to substance|decreases activity|decreases reaction 12855421
D002211 Capsaicin GCH1 gene SNP affects the susceptibility to Capsaicinaffects response to substance 19081190
D016572 Cyclosporine Cyclosporine results in decreased expression of GCH1 mRNAdecreases expression 20106945
C014347 decitabine decitabine results in increased expression of GCH1 mRNAincreases expression 19151715
19194470
D004041 Dietary Fats Dietary Fats results in decreased expression of GCH1 mRNAdecreases expression 15238619
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in increased expression of GCH1 mRNAaffects cotreatment|increases expression 20360939
D004054 Diethylstilbestrol Diethylstilbestrol results in increased expression of GCH1 mRNAincreases expression 17005392
D004298 Dopamine GCH1 protein results in increased abundance of Dopamineincreases abundance 15929554
D004958 Estradiol Estradiol affects the expression of GCH1 mRNAaffects expression 14699072
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of GCH1 mRNAdecreases expression 17108234
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of GCH1 mRNAincreases expression 17557909
15576828
D005419 Flavonoids Flavonoids results in decreased expression of GCH1 mRNAdecreases expression 18035473
C070081 fulvestrant fulvestrant inhibits the reaction [resveratrol results in increased expression of GCH1 protein]decreases reaction|increases expression 17666920
D005978 Glutathione Glutathione deficiency results in increased expression of GCH1 mRNAincreases expression 15345336
D008748 Methylcholanthrene Methylcholanthrene results in increased expression of GCH1 mRNAincreases expression 20713471
D008942 Mitoxantrone GCH1 protein affects the susceptibility to Mitoxantroneaffects response to substance 16217747
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in increased expression of GCH1 mRNAincreases expression 17616710
D010126 Ozone Ozone results in increased expression of GCH1 mRNAincreases expression 17095637
D010634 Phenobarbital Phenobarbital results in increased expression of GCH1 mRNAincreases expression 19270015
C006253 pirinixic acid pirinixic acid results in decreased expression of GCH1 mRNAdecreases expression 18445702
C059514 resveratrol fulvestrant inhibits the reaction [resveratrol results in increased expression of GCH1 protein]decreases reaction|increases expression 17666920
C059514 resveratrol resveratrol results in increased expression of GCH1 proteinincreases expression 17666920
D012402 Rotenone Rotenone results in increased expression of GCH1 mRNAincreases expression 19304788
D012402 Rotenone Rotenone results in decreased expression of GCH1 mRNAdecreases expression 19013527
C016727 sepiapterin sepiapterin inhibits the reaction [[2,4-diaminohypoxanthine results in decreased activity of GCH1 protein] which affects the susceptibility to Calcimycin]affects response to substance|decreases activity|decreases reaction 12855421
C009250 sevoflurane sevoflurane affects the expression of GCH1 mRNAaffects expression 15967596
D014284 Triiodothyronine Triiodothyronine results in increased expression of GCH1 mRNAincreases expression 15953391
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of GCH1 mRNAincreases expression 19933214
18691609
D019772 Topotecan GCH1 protein affects the susceptibility to Topotecanaffects response to substance 16217747
D014302 Trinitrobenzenesulfonic Acid Trinitrobenzenesulfonic Acid results in increased expression of GCH1 mRNAincreases expression 17982090
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Capsaicin 11.8518926900
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 11.856195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 11.8515322242 11752688 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.1318287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.5017505938
MESH:D058186 Acute Kidney Injury Capsaicin 7.8318460982
MESH:D058186 Acute Kidney Injury resveratrol 7.8316538975
MESH:D055371 Acute Lung Injury pirinixic acid 2.7218653653
MESH:D000230 Adenocarcinoma Estradiol 3.8011473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 3.8014692618
MESH:D000236 Adenoma Diethylnitrosamine 9.826695378 10737359
MESH:D000236 Adenoma Methylcholanthrene 9.8210545420 6695378
MESH:D000236 Adenoma resveratrol 9.8215688382
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 21.3119061943 17162532 19052882 16434500 17620307 18056438
MESH:D018248 Adenoma, Liver Cell Phenobarbital 21.3117620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 21.3116434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 21.3116835633
MESH:D000505 Alopecia Capsaicin 4.3917569567
MESH:D000544 Alzheimer Disease Ozone 4.0015513908
MESH:D000544 Alzheimer Disease resveratrol 4.0016162502 16183991
MESH:D000686 Amyloidosis Diethylstilbestrol 4.0715469931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.5811748828
MESH:D000799 Angioedema Acetaminophen 3.4010982225
MESH:D001161 Arteriosclerosis Dietary Fats 8.5115238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 8.5111256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 6.4515885639
MESH:D001169 Arthritis, Experimental resveratrol 6.4517115116
MESH:D001172 Arthritis, Rheumatoid Ozone 2.4515570426
MESH:D001249 Asthma Ozone 2.5017854713 16373670
MESH:D050197 Atherosclerosis Methylcholanthrene 6.0911922910
MESH:D050197 Atherosclerosis resveratrol 6.0916873680 17967414
MESH:D001284 Atrophy fulvestrant 4.4411514358
MESH:D001321 Autistic Disorder 5,6,7,8-tetrahydrobiopterin 2.4816160627
MESH:D001321 Autistic Disorder Acetaminophen 2.4818445737
MESH:D001321 Autistic Disorder Glutathione 2.4819056591 19267885 18929414 16917939
MESH:D001778 Blood Coagulation Disorders pirinixic acid 7.4919483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 7.4912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.3515340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.4815746008
MESH:D001919 Bradycardia Capsaicin 4.6318207255
MESH:D002545 Brain Ischemia Capsaicin 9.1319211983
MESH:D002545 Brain Ischemia resveratrol 9.1317600658
MESH:D001943 Breast Neoplasms 2,4-diaminotoluene 6.4411921183
MESH:D001943 Breast Neoplasms decitabine 6.4419208741 18320071
MESH:D001943 Breast Neoplasms Dietary Fats 6.4420435547
MESH:D001943 Breast Neoplasms Diethylnitrosamine 6.4417474063
MESH:D001943 Breast Neoplasms Diethylstilbestrol 6.4417129689 15324884
MESH:D001943 Breast Neoplasms Estradiol 6.4412948864 14630087 17289903 17018787 16675129 19861407 17261762 18497071
MESH:D001943 Breast Neoplasms fulvestrant 6.4418984771
MESH:D001943 Breast Neoplasms Methylcholanthrene 6.4417474063
MESH:D001943 Breast Neoplasms resveratrol 6.4417651959 16393696 17534123
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 6.4420435547
MESH:D016535 Bronchial Hyperreactivity Ozone 3.3418417511 14754758 15516495 16777450 18315731 17626835 19059883
MESH:D002100 Cachexia Ozone 4.3116183385
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.0316111702
MESH:D002277 Carcinoma Methylcholanthrene 7.2010545420
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 7.2016835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 18.2116705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 18.2116705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 18.213084413
MESH:D006528 Carcinoma, Hepatocellular anthra(1,9-cd)pyrazol-6(2H)-one 18.2119418558
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 18.2116569478 20512989 17055752 20007298 18506893 17162532 16935385 20524982 16288022 20101231 17173139 19107877 20514400 19383236 18210153 20432363 17978847 18494052 16878318 18056438 16502159 21159647 18393292 18691550 19701751 16540662 20214788 16681979 20727157 16779866 16328049 19335982 18788625 18971187 19539802 3581430 10672840 19822196 17138121 16830150 19171122 16698587 19919837 18665156 17761372 18978308 19208518 10737359 19052882 19418558 19519916 17428255 18785209 16807293 20084675 11831363 20935162 19394651 3084413
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 18.2115948411 16924424
MESH:D006528 Carcinoma, Hepatocellular Estradiol 18.2116924424
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 18.2117173139 1701930 20935162 20007298 6705139
MESH:D006528 Carcinoma, Hepatocellular resveratrol 18.2116227395 19321006
MESH:D018827 Carcinoma, Lewis Lung resveratrol 4.1616675471
MESH:D002294 Carcinoma, Squamous Cell decitabine 6.9419215824
MESH:D002294 Carcinoma, Squamous Cell Glutathione 6.9417015178
MESH:D002294 Carcinoma, Squamous Cell resveratrol 6.9416227395
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.1216120746 18670907 18850075
MESH:D002318 Cardiovascular Diseases resveratrol 3.1815458977
MESH:D002386 Cataract Acetaminophen 2.3210977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 17.916135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 17.9112371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 17.912727394 7505956 17174075 21159647
MESH:D002471 Cell Transformation, Neoplastic Estradiol 17.9118566989
MESH:D002471 Cell Transformation, Neoplastic Methylcholanthrene 17.9116192471
MESH:D002493 Central Nervous System Diseases Phenobarbital 3.834080065
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 8.1219052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 8.1216835633
MESH:D002779 Cholestasis Cyclosporine 11.4919486331
MESH:D002779 Cholestasis Ethinyl Estradiol 11.4916919318 17333356 16105132 11677210 17681005 15861022 17110522
MESH:D002779 Cholestasis pirinixic acid 11.4919176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 1.9116354765 12621046 15668235 15340226 8697196
MESH:D003092 Colitis resveratrol 8.5416474422
MESH:D003092 Colitis Trinitrobenzenesulfonic Acid 8.5416804969 18023891 16782535 17936198 16474422 16867261 11698051 17991707 18200517
MESH:D003093 Colitis, Ulcerative Trinitrobenzenesulfonic Acid 3.2917276891
MESH:D003110 Colonic Neoplasms decitabine 3.6417616700
MESH:D003110 Colonic Neoplasms resveratrol 3.6416338953
MESH:D015179 Colorectal Neoplasms decitabine 2.6018981723
MESH:D015179 Colorectal Neoplasms resveratrol 2.6016550006
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 2.7014669216 17141729
MESH:D003327 Coronary Disease resveratrol 3.4716507316
MESH:D003371 Cough Capsaicin 4.7410350223
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2415322242 10048152 20055451
MESH:D003456 Cryptorchidism Diethylstilbestrol 4.1512952375 16002989
MESH:D003490 Cyanosis 2,4-dinitrotoluene 9.4918551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 9.4918551238
MESH:D003550 Cystic Fibrosis Glutathione 4.1219747007
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.2218249437
MESH:D003921 Diabetes Mellitus, Experimental resveratrol 3.4216873680
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 3.8120387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 3.8117107852
MESH:D003928 Diabetic Nephropathies Estradiol 7.8219279558
MESH:D003928 Diabetic Nephropathies resveratrol 7.8216286809
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 10.4321346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 10.4321346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 10.4315619225 19739265 10774834 11461765 11529661 18071297 19164858 14725611 19370779 16109766 16485898 19085960 17562736 16781746 11739529 16081117 2444490 17522070 14550746 17906064 10663392 11421492 19420014 12705907 12153990 11287661 12392966 12958197 16393943 16177239 19923254 10915739 18713872 14986274 11743745 11834606 12540782 16227642 12594235 19416960 15968718
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 10.4319107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 10.4320420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 3.6619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.4411462148
MESH:D004381 Duodenal Ulcer Capsaicin 4.2911535926 10671773
MESH:D050171 Dyslipidemias Dietary Fats 3.1418367378
MESH:D004421 Dystonia Phenobarbital 3.611851702
MESH:C538007 Dystonia, Dopa-responsive marker/mechanism
MESH:D004487 Edema pirinixic acid 9.2312083418
MESH:D004487 Edema resveratrol 9.238985016
MESH:D004487 Edema Tetrachlorodibenzodioxin 9.2312711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.4615322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 7.7712538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental resveratrol 7.7717872969
MESH:D004701 Endocrine Gland Neoplasms decitabine 4.6819294695
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 4.2616402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 6.5916804899 15700306
MESH:D016889 Endometrial Neoplasms Estradiol 6.5911473722 19148513 18566989
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.659294722 10568697
MESH:D020345 Enterocolitis, Necrotizing resveratrol 4.4317923197
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 3.693659116
MESH:D004828 Epilepsies, Partial Phenobarbital 3.433922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.6620417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.186401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 3.837750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 3.593659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 4.6816302075
MESH:D004935 Esophageal Diseases Capsaicin 5.2719566590
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.6615623463 15264214 15547721 15878914 16704527 15547733 16805852 16510608 15150132
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.6911564622
MESH:D005234 Fatty Liver Cyclosporine 20.5619224547
MESH:D005234 Fatty Liver Dietary Fats 20.5617967931 19004024 19551842 18296743
MESH:D005234 Fatty Liver Diethylnitrosamine 20.5621071580 20387270
MESH:D005234 Fatty Liver Ethinyl Estradiol 20.5615345470
MESH:D005234 Fatty Liver pirinixic acid 20.5620131406 19236843
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.3916534752 16513791 15751030 16611131 16002989
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.0411858732
MESH:D005354 Fibrosarcoma Methylcholanthrene 4.5110962813 14633661
MESH:D005355 Fibrosis Cyclosporine 17.7212168785 12639820
MESH:D005355 Fibrosis Dietary Fats 17.7218296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 17.7220067830
MESH:D005355 Fibrosis Trinitrobenzenesulfonic Acid 17.7217994277
MESH:D005756 Gastritis Acetaminophen 3.2416983495
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 4.5216452187
MESH:D005885 Gingival Hyperplasia Cyclosporine 3.798708960
MESH:D005909 Glioblastoma Capsaicin 3.8418405923
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.1510696789
MESH:D006258 Head and Neck Neoplasms decitabine 3.1919215824
MESH:D006356 Heartburn Capsaicin 5.2719566590
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.1011294989 10048152
MESH:D006331 Heart Diseases Mitoxantrone 3.8516019553
MESH:D006333 Heart Failure pirinixic acid 2.2720558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 3.9915720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 2.9511000095
MESH:D006529 Hepatomegaly Phenobarbital 11.9516109766
MESH:D006529 Hepatomegaly pirinixic acid 11.9519176532 16221962 19772884 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 11.9512621046 15340226 16120746
MESH:D006558 Herpes Genitalis Estradiol 4.5915709030
MESH:D006561 Herpes Simplex resveratrol 3.7516876885
MESH:D019584 Hot Flashes Estradiol 3.3217088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.6115340226 16959395 8697196 18606429 16354765
MESH:D006930 Hyperalgesia Acetaminophen 6.9116870215
MESH:D006930 Hyperalgesia Capsaicin 6.9117434803 17043245
MESH:D006937 Hypercholesterolemia Dietary Fats 7.9421332399
MESH:D006937 Hypercholesterolemia resveratrol 7.9417188708
MESH:D006943 Hyperglycemia pirinixic acid 2.8120558911
MESH:D006949 Hyperlipidemias Dietary Fats 7.9721332399
MESH:D006949 Hyperlipidemias resveratrol 7.9716873680
OMIM:233910 HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B marker/mechanism
MESH:D006965 Hyperplasia Diethylstilbestrol 4.0214722030 12960047
MESH:D006973 Hypertension marker/mechanism 12855421
MESH:D006973 Hypertension Cyclosporine 4.3510903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 4.3518670907 18850075
MESH:D017379 Hypertrophy, Left Ventricular resveratrol 3.9317488730
MESH:D007021 Hypospadias Diethylstilbestrol 9.8416002989
MESH:D007021 Hypospadias Ethinyl Estradiol 9.8416569931 16945680
MESH:D007022 Hypotension Dopamine 4.626740701
MESH:D020244 Infarction, Middle Cerebral Artery resveratrol 4.2317600658
MESH:D007246 Infertility Diethylstilbestrol 3.9515036965
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.0712013081
MESH:D007248 Infertility, Male decitabine 9.6417581917
MESH:D007248 Infertility, Male Ethinyl Estradiol 9.6417937319
MESH:D007248 Infertility, Male fulvestrant 9.6411514358
MESH:D007249 Inflammation Capsaicin 16.9016956363
MESH:D007249 Inflammation Dietary Fats 16.9020412841
MESH:D007249 Inflammation Diethylnitrosamine 16.9018785209
MESH:D007249 Inflammation Flavonoids 16.9017296493
MESH:D007249 Inflammation resveratrol 16.9016366677
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 16.9012878042 12200463
MESH:D015212 Inflammatory Bowel Diseases Trinitrobenzenesulfonic Acid 3.3918200517
MESH:D007251 Influenza, Human resveratrol 4.1116624496
MESH:D007333 Insulin Resistance Dietary Fats 10.6318457598 11836018
MESH:D007333 Insulin Resistance Estradiol 10.6316393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 10.6316306350
MESH:D007410 Intestinal Diseases Trinitrobenzenesulfonic Acid 4.1917994277
MESH:D007414 Intestinal Neoplasms caffeic acid phenethyl ester 4.2110783313
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 2.9516580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.0015604871
MESH:D007674 Kidney Diseases Acetaminophen 12.3315629191 12587719
MESH:D007674 Kidney Diseases caffeic acid phenethyl ester 12.3315369732
MESH:D007674 Kidney Diseases Cyclosporine 12.338314463 10903974 18776723
MESH:D007674 Kidney Diseases Estradiol 12.3315618244
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 19.6316705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 19.6316705839
MESH:D007680 Kidney Neoplasms Cyclosporine 19.6312371664
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 19.6315003126 14681315 16762066
MESH:D007680 Kidney Neoplasms Estradiol 19.6315610895
MESH:D007859 Learning Disorders Diethylstilbestrol 8.6017184923
MESH:D007859 Learning Disorders sevoflurane 8.6019212262
MESH:D007938 Leukemia decitabine 2.8519235587 18980019
MESH:D015451 Leukemia, Lymphocytic, Chronic, B-Cell Mitoxantrone 3.5918172266
MESH:D007948 Leukemia, Monocytic, Acute anthra(1,9-cd)pyrazol-6(2H)-one 4.9416972261
MESH:D007951 Leukemia, Myeloid decitabine 3.6218454857 19117987 17236224
MESH:D015470 Leukemia, Myeloid, Acute decitabine 2.3018206229 19010910 19387464 17679729 18704418 18460780
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.0218055864
MESH:D015473 Leukemia, Promyelocytic, Acute caffeic acid phenethyl ester 7.1216766008
MESH:D015473 Leukemia, Promyelocytic, Acute resveratrol 7.1216087638
MESH:D008103 Liver Cirrhosis Dietary Fats 9.5918296743
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 9.5918522880 19638242 18665156 18407596 20032147
MESH:D008103 Liver Cirrhosis Phenobarbital 9.5921047994
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.0414716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.0415474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.0412878042
MESH:D008107 Liver Diseases Acetaminophen 8.3519460945 11587558 12969438 16610002 19014921 12587719 19784758 16611625
MESH:D008107 Liver Diseases Capsaicin 8.3516956363
MESH:D008107 Liver Diseases Diethylnitrosamine 8.3517034775
MESH:D008107 Liver Diseases Phenobarbital 8.3519363144
MESH:D017114 Liver Failure, Acute Acetaminophen 2.8616871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 19.137678174
MESH:D008113 Liver Neoplasms Diethylnitrosamine 19.132862719 19254457 16942905 21167192 21047994 18977376 19551842 21071580 20501860 19294768 20118626 20101389 18978307 20452335 15885732 12771043 19427195 15175105 20583210 18648771 19073162 19642983 19833225 20137499 2422723 19638242 19090486 21278145 19996281 19426721 19255062 12112319 20434301 19499222 19850985 19690152 9163691 19812893 18754104 20405173 10737359 19256749 20492335 18644402
MESH:D008113 Liver Neoplasms Diethylstilbestrol 19.1315890375 16712894
MESH:D008113 Liver Neoplasms Phenobarbital 19.1315975961 19812893 8742319 21047994 19482888 19073162
MESH:D008113 Liver Neoplasms pirinixic acid 19.1320007298 16377806 15890375
MESH:D008113 Liver Neoplasms resveratrol 19.1319812893 19321006 19073162 20405173
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 19.1316984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 15.722876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 15.7218775883 18544905 17942915 18308698 2563599 16842330 9362446 19539802 3124819 18079962 18282651 19009564 17174075 16267830 19126423 21159647 18093689 18164116 18253720 19004024 17854601 19519916
MESH:D008114 Liver Neoplasms, Experimental Methylcholanthrene 15.721399818 598648
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 15.7218308698 1399818 2563599 17172636 6150874
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 15.7212151625
MESH:D008171 Lung Diseases Ozone 3.098266340 19066396
MESH:D055370 Lung Injury Ozone 3.4320417186
MESH:D008175 Lung Neoplasms Diethylnitrosamine 4.3820970405 20512841 21163286 6695378
MESH:D008175 Lung Neoplasms Methylcholanthrene 4.3820970405 17909032 9230183 6695378 1399818 10545420 7750092 21163286 15390079 11893704 16337739 20512841 16271038
MESH:D008175 Lung Neoplasms Ozone 4.387614698 8597069
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.3819555203 11884234
MESH:D008181 Lupus Nephritis Diethylstilbestrol 4.7215166399
MESH:D008223 Lymphoma decitabine 6.7019470736
MESH:D008223 Lymphoma Diethylstilbestrol 6.7015700306
MESH:D016393 Lymphoma, B-Cell resveratrol 3.9017088997
MESH:D008228 Lymphoma, Non-Hodgkin resveratrol 3.5214749477
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.0816002989
MESH:D015674 Mammary Neoplasms, Animal resveratrol 3.8215688416
MESH:D008325 Mammary Neoplasms, Experimental 2,4-diaminotoluene 8.5011921183
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 8.5017203775 11408345 16891317 11807958
MESH:D008325 Mammary Neoplasms, Experimental resveratrol 8.508985016 11606380
MESH:D020149 Manganese Poisoning Estradiol 4.0419453300
MESH:D008545 Melanoma decitabine 3.3016505122 17785578
MESH:D008545 Melanoma resveratrol 3.3017992120
MESH:D008546 Melanoma, Experimental Acetaminophen 3.1519513568
MESH:D008569 Memory Disorders sevoflurane 4.3419212262
MESH:D008659 Metabolic Diseases resveratrol 3.9917112576
MESH:D024821 Metabolic Syndrome X 5,6,7,8-tetrahydrobiopterin 5.8017098227
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.3516801185
MESH:D008679 Metaplasia Ozone 4.6710496685
MESH:D009101 Multiple Myeloma Capsaicin 10.5317505005
MESH:D009101 Multiple Myeloma decitabine 10.5318172295
MESH:D009101 Multiple Myeloma resveratrol 10.5314749477 17049120 16267019 16490592 17935668 17164350
MESH:D009134 Muscular Atrophy, Spinal resveratrol 4.4417962980
MESH:D009135 Muscular Diseases pirinixic acid 3.0916239165
MESH:D009190 Myelodysplastic Syndromes decitabine 3.1319157545 16882708 19010910 18608210
MESH:D009203 Myocardial Infarction pirinixic acid 5.1019151258
MESH:D009203 Myocardial Infarction resveratrol 5.1016525036 16317513 17188708 16456233 17125593 17015251
MESH:D017202 Myocardial Ischemia resveratrol 7.8817125593 17015251
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 7.8812213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 7.1516810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 7.1516411023
MESH:D009205 Myocarditis resveratrol 4.3317322642
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.0417484760
MESH:D009336 Necrosis 2,4-dinitrotoluene 8.9118551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 8.917678174 18551238
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.399029167 3581430
MESH:D009369 Neoplasms decitabine 10.0719116145 17925555 19470736
MESH:D009369 Neoplasms Diethylstilbestrol 10.0715313581
MESH:D009369 Neoplasms Mitoxantrone 10.0716640825
MESH:D009369 Neoplasms pirinixic acid 10.0717405874
MESH:D009374 Neoplasms, Experimental resveratrol 3.588985016
MESH:D009389 Neovascularization, Pathologic Estradiol 3.3017289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.0017954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 2.9218481113 19348381
MESH:D009410 Nerve Degeneration Rotenone 3.5515790535 18619942 17356569
MESH:D009421 Nervous System Malformations Diethylstilbestrol 14.0111399458
MESH:D009421 Nervous System Malformations Estradiol 14.0111399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 14.0114600291
MESH:D009447 Neuroblastoma Topotecan 3.6215176712
MESH:D019636 Neurodegenerative Diseases Acetaminophen 12.0318514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 12.0320387270
MESH:D019636 Neurodegenerative Diseases resveratrol 12.0317652729
MESH:D020078 Neurogenic Inflammation Capsaicin 9.6417961222
MESH:D020078 Neurogenic Inflammation resveratrol 9.6417929310
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 4.6820387270
MESH:D009765 Obesity Capsaicin 6.7919056576
MESH:D009765 Obesity Dietary Fats 6.7920132043 17217161 20518802 21332399 18674790 19632207 18457598 16723640 11836018
MESH:D009765 Obesity pirinixic acid 6.7920558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 7.6516049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 7.6516049721
MESH:D010018 Osteomalacia Phenobarbital 3.9317016548
MESH:D015663 Osteoporosis, Postmenopausal resveratrol 3.8617513867
MESH:D010051 Ovarian Neoplasms decitabine 4.4119259094 19331143
MESH:D010051 Ovarian Neoplasms Estradiol 4.4119401270
MESH:D010146 Pain marker/mechanism 19081190
MESH:D010146 Pain Acetaminophen 5.8616870215
MESH:D010146 Pain Capsaicin 5.8617084039 19081190 17043245 18987195 17434803 16996476
MESH:D010190 Pancreatic Neoplasms decitabine 7.6519294695
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 7.6516540662
MESH:D010190 Pancreatic Neoplasms Phenobarbital 7.6516965848
MESH:D010195 Pancreatitis Trinitrobenzenesulfonic Acid 3.8117698068
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.2911578682
MESH:D010300 Parkinson Disease Rotenone 2.8111445065 18191903 19114014 16412576 11535288 16140633 15451049 18619942 19232380
MESH:D020734 Parkinsonian Disorders Rotenone 3.7015795934 18197244 15574749 15927086
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 3.8112520081
MESH:D010538 Peritonitis Ozone 3.7116369182
MESH:D010900 Pituitary Diseases Diethylstilbestrol 4.7314722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 4.2515687265 16977796
MESH:D011014 Pneumonia Ozone 3.9618007984 18381685 18929643
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.1518163543
MESH:D011230 Precancerous Conditions Cyclosporine 13.1812371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 13.182563599
MESH:D011230 Precancerous Conditions Phenobarbital 13.182563599
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 13.8217184923
MESH:D011297 Prenatal Exposure Delayed Effects resveratrol 13.8216679765
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 13.8211896295 11118676 11399792 11222880
MESH:D055728 Primary Myelofibrosis decitabine 4.3117616702
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.5020887781
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 2.8017136230 15846301 15046698
MESH:D011471 Prostatic Neoplasms Estradiol 2.8016740699
MESH:D011471 Prostatic Neoplasms resveratrol 2.8015767336 17636462 17718901 17675339 16731767 17804756
MESH:D011537 Pruritus Ethinyl Estradiol 2.8915861022 16919318
MESH:D019310 Pseudolymphoma Phenobarbital 4.0612752131
MESH:D011565 Psoriasis Cyclosporine 2.0716882103
MESH:D051436 Renal Insufficiency, Chronic resveratrol 5.1416325855
MESH:D015427 Reperfusion Injury Capsaicin 9.7718460982 19211983
MESH:D015427 Reperfusion Injury pirinixic acid 9.7719058328
MESH:D015427 Reperfusion Injury resveratrol 9.7717520802 16314181 15827377 17058453 16317513
MESH:D012130 Respiratory Hypersensitivity Acetylcholine 3.969413022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.4318990726
MESH:D012208 Rhabdomyosarcoma decitabine 4.0119155313
MESH:D012640 Seizures 2,4-dinitrotoluene 8.0918551238
MESH:D012640 Seizures 2,6-dinitrotoluene 8.0918551238
MESH:D012640 Seizures Phenobarbital 8.0911442880 16876388 3137016 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 4.396407741
MESH:D012878 Skin Neoplasms resveratrol 5.008985016 15837718
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.0016192470
MESH:D013088 Spermatocele Diethylstilbestrol 10.2516002989 16709447
MESH:D013088 Spermatocele Ethinyl Estradiol 10.2516709447
MESH:D013274 Stomach Neoplasms decitabine 3.2019037991
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 3.2018456281
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 3.2017575124 12958204
OMIM:601367 STROKE, ISCHEMIC resveratrol 4.1116321402
MESH:D013705 Temporomandibular Joint Disorders Capsaicin 5.2817997062
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.2211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 2.7915669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.4612697716
MESH:D013964 Thyroid Neoplasms decitabine 10.1217967635
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 10.127505956
MESH:D013964 Thyroid Neoplasms Phenobarbital 10.121399818
MESH:D013978 Tibial Fractures Estradiol 4.2519048282
MESH:D014062 Tongue Neoplasms resveratrol 3.8416227395
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 10.4316049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 10.4316049721
MESH:D001749 Urinary Bladder Neoplasms decitabine 10.4317616700 19087683
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 10.4317306315 16452187 16712894
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 10.5510091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 10.5510091137
MESH:D014581 Urticaria Acetaminophen 2.5810982225
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 8.4216175088
MESH:D002583 Uterine Cervical Neoplasms resveratrol 8.4217473185
MESH:D014591 Uterine Diseases Diethylstilbestrol 4.7314652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 13.7115809267 16690809
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 13.7114692618
MESH:D014594 Uterine Neoplasms resveratrol 13.7117044934
MESH:D014604 Uveal Neoplasms decitabine 4.4717785578
MESH:D014605 Uveitis Cyclosporine 3.541336536
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.0216513791 16002989
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.1512125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.1514671159 15869587
MESH:D018487 Ventricular Dysfunction, Left resveratrol 3.8817488730
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 3.8115886252
MESH:D015430 Weight Gain Dietary Fats 3.3816723640
MESH:D014985 Xerophthalmia Cyclosporine 4.0017120751
Pathway ID Pathway Name
KEGG:00790 Folate biosynthesis
KEGG:01100 Metabolic pathways
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA28608
    • No data
    Releated disease ID Related disease Name
    PA445208Pain
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA450428methotrexate
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB02325 - Isopropyl Alcohol Solvents
    DB02377 inhibitor Guanine
    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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