AutismKB 2.0

Annotation Detail for BCKDK


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Basic Information Top
Gene Symbol:BCKDK ( - )
Gene Full Name: branched chain ketoacid dehydrogenase kinase
Band: 16p11.2
Quick LinksEntrez ID:10295; OMIM: NA; Uniprot ID:BCKD_HUMAN; ENSEMBL ID: ENSG00000103507; HGNC ID: 16902
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of BCKDK mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of BCKDK mRNAaffects expression 16483693
D001104 Arbutin Arbutin results in decreased expression of BCKDK mRNAdecreases expression 17103032
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of BCKDK mRNAaffects cotreatment|affects expression 17602206
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of BCKDK mRNAaffects cotreatment|affects expression 17602206
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of BCKDK mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BCKDK mRNAaffects cotreatment|increases expression 17942748
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of BCKDK mRNAaffects cotreatment|increases expression 17183730
C006253 pirinixic acid pirinixic acid results in increased expression of BCKDK mRNAincreases expression 18301758
C035988 procymidone procymidone results in decreased expression of BCKDK mRNAdecreases expression 15686871
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of BCKDK mRNAaffects cotreatment|increases expression 17942748
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of BCKDK mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.9711752688 14514962 15322242
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 8.978875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0719490988
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.2718653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8414692618
MESH:D000236 Adenoma Diethylnitrosamine 2.9310737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 18.4616434500 17620307 18056438 19052882 17162532 19061943
MESH:D018248 Adenoma, Liver Cell pirinixic acid 18.4616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 18.4616835633
MESH:D000550 Amblyopia Valproic Acid 5.4517688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.6817497229
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8618316065 19232924 15238991 18558336 20603192 18985861 17507914 18940202 19460635 17688650 16609825 17157402 18396377 18177632 18775368
MESH:D001714 Bipolar Disorder Valproic Acid 3.1420046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.2419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.2412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.3115746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.318888407
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9517474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9520435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.913084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 2.9117761372 16569478 16288022 18691550 19822196 18494052 19171122 16878318 20007298 10737359 21159647 18210153 19335982 18788625 17173139 16681979 17978847 19052882 3581430 16328049 19701751 16935385 17138121 20512989 18393292 19418558 19539802 3084413 18506893 16502159 16779866 19383236 20935162 18056438 16540662 19919837 16830150 17162532 20524982 19107877 19519916 20514400 16698587 17055752 20101231 18971187 20084675 19208518 19394651 18665156 18785209 20727157 11831363 20432363 18978308 20214788 16807293 10672840 17428255
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4416120746 18850075 18670907
MESH:D002386 Cataract Acetaminophen 2.6610977129
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 2.9521159647 2727394 17174075 7505956
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7520734317
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 9.7419052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.7416835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.0911677210 16105132 17681005 16919318 17110522 15861022 17333356
MESH:D002779 Cholestasis pirinixic acid 8.0919176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1512621046 15340226 16354765 8697196 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5120055451 15322242 10048152
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.5117688650 16575769 8888407
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4818249437
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.3220387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.3217107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.2717906064 12153990 16177239 14725611 15968718 16393943 19085960 11461765 11287661 11529661 19739265 12705907 10915739 10663392 11421492 18071297 17522070 16781746 16081117 18713872 19923254 12540782 16109766 11743745 15619225 14550746 12392966 10774834 12958197 19416960 19164858 11739529 2444490 17562736 12594235 14986274 16485898 19420014 11834606 16227642 19370779
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 9.2719107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.2720420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 9.271733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D004421 Dystonia Valproic Acid 4.201851702
MESH:D004487 Edema pirinixic acid 7.0012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.0012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1215322242 18230668 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3512538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.159294722 10568697
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.3317275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.133922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0020417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.716426943 7562514 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.477750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.263659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.3316302075
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver Diethylnitrosamine 19.9621071580 20387270
MESH:D005234 Fatty Liver Ethinyl Estradiol 19.9615345470
MESH:D005234 Fatty Liver pirinixic acid 19.9620131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 19.9614986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D005315 Fetal Diseases Valproic Acid 5.1016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.298888407 18558336
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1220067830
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4010048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6220558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly pirinixic acid 8.8516221962 18467677 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.8515340226 12621046 16120746
MESH:D006849 Hydrocephalus Valproic Acid 5.0617688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.268697196 16959395 15340226 18606429 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3120558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9518670907 18850075
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.8016612254
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5717937319
MESH:D007249 Inflammation Diethylnitrosamine 5.1218785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1212200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7216306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2712587719 15629191
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1717596541 16294345
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.8918522880 18407596 20032147 19638242 18665156
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1715474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1712878042
MESH:D008107 Liver Diseases Acetaminophen 4.0119784758 16611625 11587558 12969438 19014921 19460945 16610002 12587719
MESH:D008107 Liver Diseases Diethylnitrosamine 4.0117034775
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3716871587 17185352
MESH:D008113 Liver Neoplasms Clofibric Acid 11.1017602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 11.1019638242 19996281 21047994 19255062 21278145 19256749 19426721 20583210 20452335 20405173 19690152 20492335 12112319 10737359 20137499 2862719 16942905 19642983 19073162 9163691 19499222 21167192 19427195 21071580 12771043 19833225 18977376 20118626 18754104 19294768 19812893 2422723 19551842 15175105 18648771 20501860 19850985 20434301 18644402 19090486 19254457 20101389 18978307 15885732
MESH:D008113 Liver Neoplasms pirinixic acid 11.1015890375 20007298 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.1016984957
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.0418544905 21159647 18079962 16267830 19126423 18775883 3124819 19004024 19519916 17854601 18282651 2563599 18093689 17174075 18253720 19539802 17942915 19009564 18164116 16842330 9362446 18308698
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0412151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.4817228818
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.2920970405 21163286 6695378 20512841
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2911884234 19555203
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D008881 Migraine Disorders Valproic Acid 3.2918803445 18765137
MESH:D009135 Muscular Diseases pirinixic acid 3.6816239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.178888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2317596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1919151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0516411023
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.613581430 9029167
MESH:D009369 Neoplasms pirinixic acid 2.0117405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3714600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.2116359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.5818514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.5820387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.3320387270
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D010146 Pain Acetaminophen 2.5016870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4616540662
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.682563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.1211118676 11222880 11399792 11896295
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 10.1220603192
MESH:D011537 Pruritus Ethinyl Estradiol 3.5115861022 16919318
MESH:D019310 Pseudolymphoma Valproic Acid 4.7611422049 12752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.4519058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3219155313
MESH:D012559 Schizophrenia Valproic Acid 2.0815737665 19110320
MESH:D012640 Seizures Valproic Acid 2.8316876388 15475178 11738929 1511512 14763951 17978042 3137016 11044598
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1616709447
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8919490988
MESH:D013226 Status Epilepticus Valproic Acid 4.7612833885
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.097505956
MESH:D014178 Translocation, Genetic Valproic Acid 5.4517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.713119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.828888407
MESH:D014581 Urticaria Acetaminophen 3.1210982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4614692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB01660 - Adenosine-5'-Diphosphate Monothiophosphate
DB03431 - Adenosine-5'-Diphosphate
No data
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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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