AutismKB 2.0

Annotation Detail for TMLHE


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Basic Information Top
Gene Symbol:TMLHE ( BBOX2,FLJ10727,TMLD,TMLH,XAP130 )
Gene Full Name: trimethyllysine hydroxylase, epsilon
Band: Xq28
Quick LinksEntrez ID:55217; OMIM: 300777; Uniprot ID:TMLH_HUMAN; ENSEMBL ID: ENSG00000185973; HGNC ID: 18308
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6100L-carnitine biosynthesis
Pathway IDPathway Name
hsa00310Lysine degradation
Pathway IDPathway Name
Metabolism of amino acids and derivatives
No data
No data
Pathway IDPathway Name
500784Carnitine synthesis
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of TMLHE mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of TMLHE mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of TMLHE mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone results in increased expression of TMLHE mRNAincreases expression 19774075
D000643 Ammonium Chloride Ammonium Chloride affects the expression of TMLHE mRNAaffects expression 16483693
C006632 arsenic trioxide arsenic trioxide results in increased expression of TMLHE mRNAincreases expression 20458559
C006253 pirinixic acid pirinixic acid results in decreased expression of TMLHE mRNAdecreases expression 18445702
C025299 polyphenols polyphenols results in decreased expression of TMLHE mRNAdecreases expression 16293270
D014415 Tunicamycin Tunicamycin results in decreased expression of TMLHE mRNAdecreases expression 17127020
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D000230 Adenocarcinoma arsenic trioxide 2.3311798837 19825857
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.863712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.7616434500
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.9918057881 18218290 20041841
MESH:D001281 Atrial Fibrillation Amiodarone 4.0518651412 19698954
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.341440618 11289319
MESH:D001778 Blood Coagulation Disorders Amiodarone 16.6319483382
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 16.6316206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 16.6319483382
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5511589617
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.7816705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.783581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.783084413
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 6.7811135700 16217749 15073043 14691202 15553829
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.1919014326
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.767296757
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.3112490120
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9519225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.3718974383
MESH:D002386 Cataract Acetaminophen 2.6910977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.126135515
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.127505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.359022650 19486331
MESH:D002779 Cholestasis pirinixic acid 8.3519176532
MESH:D003110 Colonic Neoplasms polyphenols 2.7016293270
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D023903 Coronary Restenosis arsenic trioxide 4.4212609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 1.8910525206
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.2818551238
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.3215213294
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.0611298694 12868966 18759878 14531868 8970840 11906362 8156756 2524372
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.713621924 2952479
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 12.6121346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 12.611440618 18648102 11289319 18692083 9328219 6482804 8291058 7440962 16192314 18289764 6679447 9653073 9022650
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.6112540782 15619225 11739529 12392966 11529661 16485898 11743745 19420014 12153990 16109766 12705907 19164858 18071297 16393943 17906064 19370779 14550746 11834606 10663392 16081117 18713872 12594235 17562736 16227642 10915739 16177239 2444490 12958197 17522070 11287661 10774834 19085960 11461765 15968718 19416960 14986274 19923254 11421492 19739265 14725611 16781746
MESH:D056486 Drug-Induced Liver Injury Amiodarone 12.6118218290 15265979
MESH:D056486 Drug-Induced Liver Injury polyphenols 12.6119370779
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D004487 Edema pirinixic acid 2.6812083418
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.623581430
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.6212903497
MESH:D005234 Fatty Liver Amiodarone 14.3914986274
MESH:D005234 Fatty Liver arsenic trioxide 14.3915073043
MESH:D005234 Fatty Liver pirinixic acid 14.3919236843 20131406
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.346705139
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.5016904648
MESH:D005756 Gastritis Acetaminophen 3.9916983495
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.267505956
MESH:D006333 Heart Failure pirinixic acid 2.6520558911
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.756705139
MESH:D006529 Hepatomegaly Amiodarone 9.4515265979
MESH:D006529 Hepatomegaly pirinixic acid 9.4519772884 18467677 16221962 19176532
MESH:D006930 Hyperalgesia Acetaminophen 2.8616870215
MESH:D006937 Hypercholesterolemia Amiodarone 4.088137927 9751232
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2015034207
MESH:D007037 Hypothyroidism Amiodarone 4.7718020914 17991464
MESH:D007249 Inflammation polyphenols 3.1516366677
MESH:D007333 Insulin Resistance pirinixic acid 2.7616306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.348074119 9022650
MESH:D007674 Kidney Diseases Acetaminophen 2.3015629191 12587719
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.9416705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.946582329
MESH:D007938 Leukemia arsenic trioxide 2.9215070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.0012560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5916972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5814633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.9719077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1617050201 19850784 20471514 16968895 16467208
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3416331271 16330433 19225113 19075265 11161223 19035177 12679006 17217047 16823087 17649720 15748426 12018890 15622746 11468182 16966277 12712474 17869043 16112521 17712046 17107899 19642359 16891316 15213294 15336539 9834237
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5916882451
MESH:D008064 Lipidoses Amiodarone 3.6517567588 15342952
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3115034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 4.3111587558 19014921 16610002 19460945 19784758 12969438 12587719 16611625
MESH:D008107 Liver Diseases polyphenols 4.3116698588
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4316871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.817678174
MESH:D008113 Liver Neoplasms arsenic trioxide 7.8114682389
MESH:D008113 Liver Neoplasms pirinixic acid 7.8116377806 15890375 20007298
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.572876786 6135515 2876784
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.571399818 3712494 598648 6587162
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 10.5720377131
MESH:D008133 Long QT Syndrome Amiodarone 8.7217391786 11989578 15350150
MESH:D008133 Long QT Syndrome arsenic trioxide 8.7215213294
MESH:D008171 Lung Diseases Amiodarone 3.5012587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.8018516814
MESH:D008175 Lung Neoplasms arsenic trioxide 1.8711798837 19825857
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2515949261 19549372 14977855 19417148 11468182
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009181 Mycoses Amiodarone 5.2212754197 17974566
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.9918349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2516105982 16882451
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.157678174 18551238
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.2016624393
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.543581430
MESH:D009369 Neoplasms pirinixic acid 2.0317405874
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.686679447
MESH:D009436 Neural Tube Defects arsenic trioxide 7.6810525206
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0418514411
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.5416049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 9.544026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.343988306
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4616624393 19769630 12452020
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5815580305
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.747296757
MESH:D010235 Paraganglioma arsenic trioxide 4.3819927285
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.796228378
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.2419131511
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9212832656 11597910 12490602
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.523692021
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.2016646077
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6718551238
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.3718724381
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D013276 Stomach Ulcer Amiodarone 3.5218087811
MESH:D013610 Tachycardia Amiodarone 4.5311238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.4319225199
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.5717997062
MESH:D013959 Thyroid Diseases Amiodarone 5.0819731979
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.683712494 1399818 6582329 7505956 6587162
MESH:D013964 Thyroid Neoplasms arsenic trioxide 7.6819014326
MESH:D013971 Thyrotoxicosis Amiodarone 5.1218020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 11.2317467628 11989578
MESH:D016171 Torsades de Pointes arsenic trioxide 11.2315213294
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.7216049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.728074119
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 8.7212845720 20435036 11780464 12973940
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.6010091137
MESH:D014581 Urticaria Acetaminophen 3.2010982225
Pathway ID Pathway Name
KEGG:00310 Lysine degradation
REACT:13 Metabolism of amino acids and derivatives
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA38311
  • No data
    No data
    Releated drug ID Related drug Name
    PA449789glycine
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00126 - Vitamin C Antioxidants;Essential Vitamins;Free Radical Scavengers;Vitamins (Vitamin C);Vitamins
    DB00139 - Ubicoenzyme Anti-Ulcer Agents;Dietary supplement;Micronutrient;Radiation-Protective Agents
    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