AutismKB 2.0

Annotation Detail for MRPL40


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Basic Information Top
Gene Symbol:MRPL40 ( FLJ41774,MGC9400,MRP-L22,NLVCF,URIM )
Gene Full Name: mitochondrial ribosomal protein L40
Band: 22q11.21
Quick LinksEntrez ID:64976; OMIM: 605089; Uniprot ID:RM40_HUMAN; ENSEMBL ID: ENSG00000185608; HGNC ID: 14491
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
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of MRPL40 mRNAaffects expression 21346803
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of MRPL40 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of MRPL40 mRNAaffects expression 17562736
D016572 Cyclosporine Cyclosporine results in decreased expression of MRPL40 mRNAdecreases expression 20106945
D017239 Paclitaxel MRPL40 protein affects the susceptibility to Paclitaxelaffects response to substance 16217747
D010634 Phenobarbital Phenobarbital affects the expression of MRPL40 mRNAaffects expression 19136022
C006253 pirinixic acid pirinixic acid affects the expression of MRPL40 mRNAaffects expression 19136022
C006253 pirinixic acid pirinixic acid results in increased expression of MRPL40 mRNAincreases expression 18301758
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 10.057525203
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 10.056195326
MESH:D055371 Acute Lung Injury pirinixic acid 3.4218653653
MESH:D018248 Adenoma, Liver Cell Phenobarbital 11.4817620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.4816434500
MESH:D000799 Angioedema Acetaminophen 4.2910982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4319483382
MESH:D001859 Bone Neoplasms Paclitaxel 4.8715867366
MESH:D001943 Breast Neoplasms Paclitaxel 2.8918323546 18234424 15136595 11325840 16115903 18223236 16244791 16273361
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.8916705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.893084413
MESH:D006528 Carcinoma, Hepatocellular Paclitaxel 6.8916313753
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 6.896705139 20007298 1701930 17173139 20935162
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 7.9114694615
MESH:D002386 Cataract Acetaminophen 7.9110977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7112371664
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.614080065
MESH:D002779 Cholestasis Cyclosporine 8.4419486331
MESH:D002779 Cholestasis pirinixic acid 8.4419176532
MESH:D015179 Colorectal Neoplasms Paclitaxel 2.4518802399
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 4.4115095906
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.3718551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5318249437
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.6718551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 6.6721346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.6719923254 11461765 16485898 16177239 2444490 19416960 14986274 18071297 12153990 11743745 16227642 17522070 10663392 11421492 19164858 11739529 16393943 12705907 15619225 17906064 11529661 10915739 19420014 14725611 12392966 19085960 14550746 19739265 17562736 15968718 19370779 11287661 12594235 16781746 12540782 16081117 10774834 16109766 12958197 18713872 11834606
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.5419426721
MESH:D004421 Dystonia Phenobarbital 4.311851702
MESH:D004487 Edema pirinixic acid 2.7612083418
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.473659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.313922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0120417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.796401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.617750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.413659116
MESH:D004938 Esophageal Neoplasms Paclitaxel 2.9516481741
MESH:D005234 Fatty Liver Cyclosporine 8.5119224547
MESH:D005234 Fatty Liver pirinixic acid 8.5119236843 20131406
MESH:D005355 Fibrosis Cyclosporine 3.5012639820 12168785
MESH:D005756 Gastritis Acetaminophen 4.1216983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.628708960
MESH:D006333 Heart Failure pirinixic acid 2.6920558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8215720958
MESH:D006529 Hepatomegaly Phenobarbital 9.7016109766
MESH:D006529 Hepatomegaly pirinixic acid 9.7019176532 16221962 19772884 18467677
MESH:D006930 Hyperalgesia Acetaminophen 2.9216870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4520558911
MESH:D006973 Hypertension Cyclosporine 2.1810903974
MESH:D007333 Insulin Resistance pirinixic acid 2.8016306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8815604871
MESH:D007674 Kidney Diseases Acetaminophen 6.2812587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.2818776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.0616705839
MESH:D007680 Kidney Neoplasms Cyclosporine 8.0612371664
MESH:D008080 Liposarcoma Paclitaxel 5.1317353645
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0321047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 4.1312969438 19014921 16611625 19784758 12587719 19460945 16610002 11587558
MESH:D008107 Liver Diseases Phenobarbital 4.1319363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5017185352 16871587
MESH:D008113 Liver Neoplasms Phenobarbital 4.7619073162 21047994 15975961 19812893 19482888 8742319
MESH:D008113 Liver Neoplasms pirinixic acid 4.7615890375 16377806 20007298
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.8617172636 6150874 1399818 18308698 2563599
MESH:D008228 Lymphoma, Non-Hodgkin Paclitaxel 4.3214749477
MESH:D008545 Melanoma Paclitaxel 2.6216342250 12040289 12025231
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9319513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.2316801185
MESH:D009101 Multiple Myeloma Paclitaxel 3.8814749477
MESH:D009135 Muscular Diseases pirinixic acid 3.8616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2419151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1616411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.8717484760
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.2518551238
MESH:D009362 Neoplasm Metastasis Paclitaxel 3.3415867366
MESH:D009369 Neoplasms pirinixic acid 2.0617405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5318481113 19348381
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1018514411
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 10.0316049721 12819281
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 10.0314694615
MESH:D010014 Osteolysis Paclitaxel 5.3815867366
MESH:D010018 Osteomalacia Phenobarbital 4.7617016548
MESH:D010051 Ovarian Neoplasms Paclitaxel 3.0611161223
MESH:D010146 Pain Acetaminophen 2.6216870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5716965848
MESH:D011230 Precancerous Conditions Cyclosporine 9.8112371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.812563599
MESH:D011471 Prostatic Neoplasms Paclitaxel 3.8116356831 16729912 17136230 17172428
MESH:D019310 Pseudolymphoma Phenobarbital 4.9412752131
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5019058328
MESH:D012640 Seizures 2,4-dinitrotoluene 6.5318551238
MESH:D012640 Seizures Phenobarbital 6.533137016 16876388 11442880 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.226407741
MESH:D013274 Stomach Neoplasms Paclitaxel 2.4418506536 18396642
MESH:D024801 Tauopathies Paclitaxel 5.2116930453
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.261399818
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3716049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.7110091137
MESH:D014581 Urticaria Acetaminophen 3.2810982225
MESH:D014605 Uveitis Cyclosporine 4.431336536
MESH:D014985 Xerophthalmia Cyclosporine 4.8817120751
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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