AutismKB 2.0

Annotation Detail for BCAT1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BCAT1 ( BCATC,BCT1,DKFZp686E12175,ECA39,MECA39,PNAS121,PP18 )
Gene Full Name: branched chain amino-acid transaminase 1, cytosolic
Band: 12p12.1
Quick LinksEntrez ID:586; OMIM: 113520; Uniprot ID:BCAT1_HUMAN; ENSEMBL ID: ENSG00000060982; HGNC ID: 976
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
VALDEG-PWYvaline degradation I
ILEUDEG-PWYisoleucine degradation I
LEU-DEG2-PWYleucine degradation I
ILEUSYN-PWYisoleucine biosynthesis I (from threonine)
Pathway IDPathway Name
hsa00280Valine, leucine and isoleucine degradation
hsa00770Pantothenate and CoA biosynthesis
hsa01100Metabolic pathways
hsa00290Valine, leucine and isoleucine biosynthesis
Pathway IDPathway Name
Metabolism of amino acids and derivatives
Pathway IDPathway Name
200045Validated targets of C-MYC transcriptional activation
Pathway IDPathway Name
P02748Isoleucine biosynthesis
P02749Leucine biosynthesis
P02785Valine biosynthesis
P02724Alanine biosynthesis
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2028Nasopharyngeal cancer
2043Advanced cancer
2053Colon cancer
No data
No data
Desease Name
Hyperleucinemia-isoleucinemia or hypervalinemia
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C063002 2,3-dimethoxy-1,4-naphthoquinone 2,3-dimethoxy-1,4-naphthoquinone results in decreased expression of BCAT1 mRNAdecreases expression 17547211
C026137 3-hydroxyacetanilide 3-hydroxyacetanilide results in decreased expression of BCAT1 mRNAdecreases expression 18544908
D000082 Acetaminophen Acetaminophen results in decreased expression of BCAT1 mRNAdecreases expression 18544908
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of BCAT1 proteinaffects expression 20106945
D000643 Ammonium Chloride Ammonium Chloride affects the expression of BCAT1 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of BCAT1 mRNAdecreases expression 20064835
20106945
C002791 bismuth tripotassium dicitrate bismuth tripotassium dicitrate results in increased expression of BCAT1 mRNAincreases expression 15912405
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of BCAT1 mRNAincreases expression 17484886
D016572 Cyclosporine Cyclosporine results in increased expression of BCAT1 mRNAincreases expression 20106945
C017180 decamethrin decamethrin results in increased expression of BCAT1 mRNAincreases expression 19017407
D004054 Diethylstilbestrol Diethylstilbestrol results in increased expression of BCAT1 mRNAincreases expression 15171707
15289156
D004958 Estradiol Estradiol results in increased expression of BCAT1 mRNAincreases expression 15289156
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of BCAT1 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of BCAT1 mRNAincreases expression 17942748
16467188
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BCAT1 mRNAaffects cotreatment|increases expression 17942748
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of BCAT1 mRNAaffects expression 17351261
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of BCAT1 mRNAincreases expression 15834898
D005472 Fluorouracil TP53 protein affects the reaction [Fluorouracil results in decreased expression of BCAT1 mRNA]affects reaction|decreases expression 15016801
D019833 Genistein Genistein results in increased expression of BCAT1 mRNAincreases expression 15289156
D008767 Methylmercury Compounds Methylmercury Compounds results in increased expression of BCAT1 mRNAincreases expression 16966085
D011374 Progesterone Progesterone results in decreased expression of BCAT1decreases expression 17510236
D013629 Tamoxifen Tamoxifen affects the expression of BCAT1 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of BCAT1 mRNAdecreases expression 20106945
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BCAT1 mRNAaffects cotreatment|increases expression 17942748
C496197 trans-10,cis-12-conjugated linoleic acid trans-10,cis-12-conjugated linoleic acid results in decreased expression of BCAT1 mRNAdecreases expression 17951470
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.4714745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.7615322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.4718287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.8617505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 13.3120127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 13.3111473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 13.3114692618
MESH:D000230 Adenocarcinoma Fluorouracil 13.3117638652
MESH:D000230 Adenocarcinoma Genistein 13.3111473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.606695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.2916835633
MESH:D000686 Amyloidosis Diethylstilbestrol 4.3915469931
MESH:D000740 Anemia Fluorouracil 8.4215504547 17963324 16511603
MESH:D000740 Anemia Tetrachlorodibenzodioxin 8.4211748828
MESH:D000799 Angioedema Acetaminophen 3.7610982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 3.9919183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.3811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6115885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4318445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 2.9612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.7115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7115746008
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.2617868700
MESH:D001930 Brain Injuries Progesterone 4.1715845082 15665606 15380490
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 4.6717474063 20146248
MESH:D001943 Breast Neoplasms Diethylstilbestrol 4.6717129689 15324884
MESH:D001943 Breast Neoplasms Estradiol 4.6718497071 12948864 17018787 17289903 19861407 14630087 16675129 17261762
MESH:D001943 Breast Neoplasms Fluorouracil 4.6719217205 16110121 15136595 16557594 16595493 18357371 18608205
MESH:D001943 Breast Neoplasms Genistein 4.6717200150 16541309 16873071
MESH:D001943 Breast Neoplasms Progesterone 4.6715562024 16175315 17614352
MESH:D001943 Breast Neoplasms Tamoxifen 4.6718984771 19200415 16818667 15565566 19142967 17893378 18855134 19189212 19059307 19288272 19410462 17261762 18351453 17049068 17242785 21152245 16273361 19221464 19103187 20544844 21138602 18815881 18997820 20859285 18425577 17440819 16873071 20390343 18821012 19487384 20005174 19189210 19244106 19084267 19289846 11161223 19066611 19115204 16202921 20135344 20065188 15668708 19011961 19155303 18629630
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 4.6720435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.3816111702
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.6910355542 16192424 3786805 16124888 16227642 16011737 15721981 16050911 15673190 16097048 15700767 18705752
MESH:D002276 Carcinoid Tumor Fluorouracil 4.5916051944
MESH:D002277 Carcinoma Fluorouracil 7.9517121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 7.9516835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.4219066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 16.713084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 16.7112907637 21507988 12619106
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 16.7118788625
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 16.7115948411 16924424
MESH:D006528 Carcinoma, Hepatocellular Estradiol 16.7116924424
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 16.7117045692 16332177 18930000 17088986 17971768 16799960
MESH:D006528 Carcinoma, Hepatocellular Genistein 16.7116924424
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 16.7116924424
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 2.9818695887
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.5620419170
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 4.5618986760 17066447 16757204 16280240
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.5317572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3218850075 16120746 18670907
MESH:D002318 Cardiovascular Diseases Genistein 3.2416332659
MESH:D002386 Cataract Acetaminophen 2.5310977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.3712371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 6.3718566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.0816835633
MESH:D002779 Cholestasis Cyclosporine 7.5619486331
MESH:D002779 Cholestasis Ethinyl Estradiol 7.5617110522 11677210 17333356 16919318 15861022 16105132 17681005
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.0715668235 8697196 16354765 15340226 12621046
MESH:D003110 Colonic Neoplasms Fluorouracil 3.8017287894 16340194 17016597 16510598 17169374 18772588 17172411 17725105 17018589 15001691
MESH:D003110 Colonic Neoplasms Genistein 3.8017182828
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0018448328 17016601 16524972 18383874 18802399 16282729 17695437 15148649 20501625 17594712 16391804 18949393 17094418 18288408 15289873 18509181 17255274 17454858 14970324 17401013 16303861 16331619
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 2.9814669216 17141729
MESH:D019465 Craniofacial Abnormalities decamethrin 2.9119861644
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.9110048152 20055451 15322242
MESH:D003456 Cryptorchidism Diethylstilbestrol 4.4712952375 16002989
MESH:D007644 Darier Disease Fluorouracil 4.7116733453
MESH:D003704 Dementia Methylmercury Compounds 4.9116140633
MESH:D003711 Demyelinating Diseases Tamoxifen 4.2819031437
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.2616647724
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.2617107852
MESH:D003928 Diabetic Nephropathies Estradiol 8.5819279558
MESH:D003928 Diabetic Nephropathies Tamoxifen 8.5819279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.4117187935
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 5.9712540782 15619225 11287661 16109766 17906064 16393943 12153990 19164858 11739529 16081117 18713872 19085960 18071297 16485898 11529661 15968718 11743745 2444490 14550746 12594235 10663392 12392966 10915739 16177239 12958197 17562736 12705907 10774834 19739265 19923254 11421492 19420014 17522070 19370779 19416960 11461765 16781746 14725611 16227642 11834606 14986274
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 5.9715027814 17522070 19336974 4309450 10092053 15968718 2869522 19085960 7179309 16177239 6884620 9327722 6623471 10915739 16227642 21278145 15998439 11566570 3786805 3732212 7120509 7440962
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 5.9720420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.6911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.3011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.8215322242 18230668 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 14.8312538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 14.8317692515
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 14.8319031437
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 11.6116402032
MESH:D004714 Endometrial Hyperplasia Genistein 11.6116402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 17.3216804899 15700306
MESH:D016889 Endometrial Neoplasms Estradiol 17.3219148513 18566989 11473722
MESH:D016889 Endometrial Neoplasms Genistein 17.3211473722
MESH:D016889 Endometrial Neoplasms Tamoxifen 17.3216202921 17893378 19155303 20544844
MESH:D004715 Endometriosis Progesterone 8.6616134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 8.669294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4116530937
MESH:D004938 Esophageal Neoplasms Fluorouracil 4.4115173087 17638652 16337965 16785472 16481741
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.9511564622
MESH:D005234 Fatty Liver Carbon Tetrachloride 18.0815959796 16239168 12795759 19224547 17595544 16045604 12631006 61145
MESH:D005234 Fatty Liver Cyclosporine 18.0819224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 18.0815345470
MESH:D005234 Fatty Liver Tamoxifen 18.0819224547 14986274
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 8.0316611131 16002989 16534752 16513791 15751030
MESH:D052776 Female Urogenital Diseases Tamoxifen 8.0316709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.3711858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.4414745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.1019069698
MESH:D005355 Fibrosis Carbon Tetrachloride 14.2118705752
MESH:D005355 Fibrosis Cyclosporine 14.2112168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 14.2120067830
MESH:D005756 Gastritis Acetaminophen 3.5916983495
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 4.8616452187
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.138708960
MESH:D005909 Glioblastoma Genistein 3.2016598420
MESH:D005910 Glioma Fluorouracil 2.8316145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.5110696789
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.3315102660 15162350 18337622
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.2920471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.2910048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.3415720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2511000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.5119900420 19110552
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 2.8115340226 12621046 16120746
MESH:D006558 Herpes Genitalis Estradiol 4.9515709030
MESH:D019584 Hot Flashes Estradiol 3.6717088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.9616354765 18606429 8697196 15340226 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.6316870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.4516899240
MESH:D006965 Hyperplasia Diethylstilbestrol 4.3514722030 12960047
MESH:D006973 Hypertension Cyclosporine 4.8310903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 4.8318670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.0015338365
MESH:D007021 Hypospadias Diethylstilbestrol 10.9516002989
MESH:D007021 Hypospadias Ethinyl Estradiol 10.9516569931 16945680
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.3115869954
MESH:D007246 Infertility Diethylstilbestrol 4.2715036965
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.3812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.4317937319
MESH:D007249 Inflammation Progesterone 8.0315869954
MESH:D007249 Inflammation Tamoxifen 8.0319457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.0312878042 12200463
MESH:D007299 Insect Bites and Stings decamethrin 5.7215189238
MESH:D007333 Insulin Resistance Estradiol 2.9116393666 16627594
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.2516580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.3615604871
MESH:D007674 Kidney Diseases Acetaminophen 9.6815629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 9.6818776723 10903974 8314463
MESH:D007674 Kidney Diseases Estradiol 9.6815618244
MESH:D007680 Kidney Neoplasms Cyclosporine 22.5612371664
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 22.5616762066 15003126 14681315
MESH:D007680 Kidney Neoplasms Estradiol 22.5615610895
MESH:D007680 Kidney Neoplasms Fluorouracil 22.5616985049
MESH:D007680 Kidney Neoplasms Tamoxifen 22.5618625569
MESH:D007859 Learning Disorders Diethylstilbestrol 3.9717184923
MESH:D007938 Leukemia Genistein 2.9818980019 17468513
MESH:D008064 Lipidoses Tamoxifen 3.0917567588 15342952
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.7616943688 17157831 11408273 21278145 16221502 17174718 16239168 11903743 17334410
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 6.6218251166 16638106 15818738 17565644 15362042 12666154 15730626 17481882 15673190 12445418 18429990 18472094 18376398 17944888 12741479 15925388 17761835 12632514 18339082 18054572 17708605 17922224 16027843 17698563 12586293 16015684 17714472 17823541 17721639 12649538 15996030 18166357 12546737 14512876 15123356 18006644 18279442 17805973 17631135 18412020 12632512 18705752 16192424 15650968 15052691 15370692 16033810 18317297 12445421 12389079 17640975 14724832 12958196 15338365 17900296 16116963 16097048 12898905 18187930 18472332 15876570 14620537 18205269 18395914 13678700 16248980 18418968 11481614 12667390 15893842 17525996 20821823 18395095 18210741 12609069 15057751 18156304 16136751 18420326 18481824 17766677 15931870 16011737 14716496 17976157 18277467 15959796 17869086 18263696 14748882 14716833 17557913 10355542
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 6.6214659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Genistein 6.6217823541
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 6.6218564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 6.6212878042
MESH:D008107 Liver Diseases Acetaminophen 3.8212969438 12587719 19460945 11587558 19014921 16611625 16610002 19784758
MESH:D008107 Liver Diseases Carbon Tetrachloride 3.8215830285 16246199 16964402 15720792 17285989
MESH:D017093 Liver Failure Carbon Tetrachloride 4.0815123358
MESH:D017114 Liver Failure, Acute Acetaminophen 9.1416871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 9.1416899240 14706259
MESH:D008113 Liver Neoplasms Aflatoxin B1 21.4118177683 15890375 9163691 2125692
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 21.4120195826 21137059
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 21.4119294768
MESH:D008113 Liver Neoplasms Diethylstilbestrol 21.4116712894 15890375
MESH:D008113 Liver Neoplasms Fluorouracil 21.4115113037 16603448 18383874 17045692
MESH:D008113 Liver Neoplasms Tamoxifen 21.4116684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 21.4116984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 9.498603461
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 9.4915583823 12014681
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 9.4912151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 6.4714755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 6.4718816296 20135361 20869020 20464547 20064080 17053015 6695378 18520028 18569708
MESH:D008175 Lung Neoplasms Fluorouracil 6.4715246190
MESH:D008175 Lung Neoplasms Tamoxifen 6.4718625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 6.4711884234 19555203
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 4.7115086387
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.0615166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.4115700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.4316002989
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.6719428831
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 13.8117203775 16891317 11408345 11807958
MESH:D008325 Mammary Neoplasms, Experimental Genistein 13.8112929590 14578162
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 13.8111408345 17203775
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 13.8111731420 16827153 14580682 19196723 19196722
MESH:D020149 Manganese Poisoning Estradiol 12.3819453300
MESH:D020149 Manganese Poisoning Tamoxifen 12.3819453300
MESH:D008545 Melanoma Tamoxifen 1.8712393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.1015990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.4819513568
MESH:D008569 Memory Disorders Methylmercury Compounds 4.8218436314
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.7116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 8.3016381670
MESH:D009062 Mouth Neoplasms Fluorouracil 8.3016757204 18986760
MESH:D009069 Movement Disorders Methylmercury Compounds 5.2418436314
MESH:D009203 Myocardial Infarction Genistein 2.8217141266
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.9512213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.2816810080
MESH:D015428 Myocardial Reperfusion Injury Genistein 8.2817141266
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5119393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.4919410462
MESH:D009369 Neoplasms Benzo(a)pyrene 8.0811141357
MESH:D009369 Neoplasms Diethylstilbestrol 8.0815313581
MESH:D009369 Neoplasms Fluorouracil 8.0818239605 18600527 16928823
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 3.9219189210 19196722 19200415
MESH:D009389 Neovascularization, Pathologic Estradiol 3.6517289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.3617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2118481113 19348381
MESH:D009421 Nervous System Malformations Diethylstilbestrol 22.7511399458
MESH:D009421 Nervous System Malformations Estradiol 22.7516427766 11399458
MESH:D009421 Nervous System Malformations Genistein 22.7516427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 22.7514600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8018514411
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.3816436463
MESH:D010024 Osteoporosis Genistein 3.2019401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.0016169203
MESH:D010051 Ovarian Neoplasms Estradiol 7.7619401270
MESH:D010051 Ovarian Neoplasms Genistein 7.7619005980
MESH:D010051 Ovarian Neoplasms Progesterone 7.7617393432 16525653
MESH:D010146 Pain Acetaminophen 2.3216870215
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.6316929163 19003803 15113037 16500647
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6011578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.1712520081
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.0914722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 4.5816977796 15687265
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.4718163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.1412371664
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 15.9317184923
MESH:D011297 Prenatal Exposure Delayed Effects Methylmercury Compounds 15.9318436314
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 15.9311222880 11896295 11399792 11118676
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.8020887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 1.8817292933
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 1.8815046698 15846301 17136230
MESH:D011471 Prostatic Neoplasms Estradiol 1.8816740699
MESH:D011471 Prostatic Neoplasms Fluorouracil 1.8819082440 18626508
MESH:D011471 Prostatic Neoplasms Genistein 1.8815256057 16925846 15378649
MESH:D011471 Prostatic Neoplasms Tamoxifen 1.8815067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.2316919318 15861022
MESH:D011565 Psoriasis Cyclosporine 2.2016882103
MESH:D012004 Rectal Neoplasms Fluorouracil 3.9318722050 18286688 16160472 15538739
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.7518990726
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8318045962
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.3310029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.3316192470
MESH:D013088 Spermatocele Diethylstilbestrol 19.6716002989 16709447
MESH:D013088 Spermatocele Ethinyl Estradiol 19.6716709447
MESH:D013088 Spermatocele Tamoxifen 19.6716709447
MESH:D013119 Spinal Cord Injuries Progesterone 10.5916503802 15862959
MESH:D013119 Spinal Cord Injuries Tamoxifen 10.5919457130
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4020155912 2093021
MESH:D013274 Stomach Neoplasms Fluorouracil 2.4017498489 17522103 18567086 17172411 16951190 16424979 19015929 19084572 18396642 15786421
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.5411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.0715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.8212697716
MESH:D013978 Tibial Fractures Estradiol 4.6019048282
MESH:D014062 Tongue Neoplasms Fluorouracil 3.9116280240
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.1417053015
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 8.1417306315 16712894 16452187
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.1416712894 8653321 17572228
MESH:D014581 Urticaria Acetaminophen 2.8910982225
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 9.3216175088
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 9.3216803524
MESH:D014591 Uterine Diseases Diethylstilbestrol 5.0914652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 9.1915809267 16690809
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 9.1914692618
MESH:D014605 Uveitis Cyclosporine 3.901336536
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.3516002989 16513791
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.5112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.4615869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.1715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.3617120751
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:13 Metabolism of amino acids and derivatives
KEGG:00770 Pantothenate and CoA biosynthesis
KEGG:00290 Valine, leucine and isoleucine biosynthesis
KEGG:00280 Valine, leucine and isoleucine degradation
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA25288
  • No data
    No data
    Releated drug ID Related drug Name
    PA448625biotin
    PA451843l-valine
    PA10090l-glutamine
    PA450197l-leucine
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00114 - Pyridoxal Phosphate Dietary supplement;Micronutrient;Vitamin B Complex
    DB00142 - L-Glutamic Acid Dietary supplement;Micronutrient;Non-Essential Amino Acids
    DB00149 - Hi-Test Muscle Octane BCAA's (Anabol Naturals) Dietary supplement;Micronutrient;Essential Amino Acids
    DB00161 - L-Valine Dietary supplements;Essential Amino Acids;Micronutrients
    DB00167 - L-Isoleucine Dietary supplement;Micronutrient;Essential Amino Acids
    DB07544 - N'-(5-CHLOROBENZOFURAN-2-CARBONYL)-2-(TRIFLUOROMETHYL)BENZENESULFONOHYDRAZIDE
    Drugbank ID Action Drug Name Description
    DB00996 inhibitor Gabapentin Anti-anxiety Agents;Anticonvulsants;Antiparkinson Agents;Analgesics;Calcium Channel Blockers;Antimanic Agents;Excitatory Amino Acid Antagonists
    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