AutismKB 2.0

Annotation Detail for ETHE1


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Basic Information Top
Gene Symbol:ETHE1 ( HSCO,YF13H12 )
Gene Full Name: ethylmalonic encephalopathy 1
Band: 19q13.31
Quick LinksEntrez ID:23474; OMIM: 608451; Uniprot ID:ETHE1_HUMAN; ENSEMBL ID: ENSG00000105755; HGNC ID: 23287
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Ethylmalonic encephalopathy
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of ETHE1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of ETHE1 mRNAaffects expression 17562736
D002995 Clofibric Acid Clofibric Acid affects the expression of ETHE1 mRNAaffects expression 17602206
D016572 Cyclosporine Cyclosporine results in decreased expression of ETHE1 mRNAdecreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of ETHE1 mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid results in decreased expression of ETHE1 mRNAdecreases expression 18445702
15302862
C006253 pirinixic acid pirinixic acid results in increased expression of ETHE1 mRNAincreases expression 17426115
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 2.9516705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.953084413
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7612371664
MESH:D002779 Cholestasis Cyclosporine 8.6319486331
MESH:D002779 Cholestasis pirinixic acid 8.6319176532
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.5018551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 3.9921346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.9911739529 17522070 16227642 12705907 12392966 15968718 17562736 19085960 11834606 10915739 19420014 12958197 18713872 16177239 16393943 11421492 15619225 11287661 19164858 16081117 14550746 14986274 12540782 17906064 10663392 18071297 2444490 16109766 19923254 16781746 16485898 11461765 19370779 19416960 11743745 19739265 12594235 14725611 10774834 12153990 11529661
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004487 Edema pirinixic acid 2.8512083418
OMIM:602473 ENCEPHALOPATHY, ETHYLMALONIC marker/mechanism
MESH:D005234 Fatty Liver Cyclosporine 8.8219224547
MESH:D005234 Fatty Liver pirinixic acid 8.8219236843 20131406
MESH:D005355 Fibrosis Cyclosporine 3.6212639820 12168785
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006529 Hepatomegaly pirinixic acid 3.4816221962 19772884 19176532 18467677
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006973 Hypertension Cyclosporine 2.2010903974
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Acetaminophen 6.4112587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.4118776723 8314463 10903974
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.3016705839
MESH:D007680 Kidney Neoplasms Cyclosporine 8.3012371664
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.6919460945 19784758 19014921 16610002 12587719 16611625 11587558 12969438
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5817185352 16871587
MESH:D008113 Liver Neoplasms Clofibric Acid 4.9717602206
MESH:D008113 Liver Neoplasms pirinixic acid 4.9720007298 16377806 15890375
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.4018551238
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6118481113 19348381
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.7816049721 12819281
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7618551238
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3916049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.8610091137
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
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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