AutismKB 2.0

Annotation Detail for L2HGDH


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Basic Information Top
Gene Symbol:L2HGDH ( C14orf160,DURANIN,FLJ12618 )
Gene Full Name: L-2-hydroxyglutarate dehydrogenase
Band: 14q21.3
Quick LinksEntrez ID:79944; OMIM: 609584; Uniprot ID:L2HDH_HUMAN; ENSEMBL ID: ENSG00000087299; HGNC ID: 20499
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00650Butanoate metabolism
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Related Diseases/Disorders Top
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Desease Name
L-2-hydroxyglutaric aciduria
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of L2HGDH mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of L2HGDH mRNAaffects expression 17562736
D000082 Acetaminophen Acetaminophen results in decreased expression of L2HGDH mRNAdecreases expression 19420014
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of L2HGDH mRNAdecreases expression 20018196
D016572 Cyclosporine Cyclosporine results in decreased expression of L2HGDH mRNAdecreases expression 20106945
C006253 pirinixic acid pirinixic acid results in decreased expression of L2HGDH mRNAdecreases expression 18445702
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 2,6-dinitrotoluene 2.9516705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.953084413
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 12.536135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 12.5320889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 12.5312371664
MESH:D002779 Cholestasis Cyclosporine 8.6319486331
MESH:D002779 Cholestasis pirinixic acid 8.6319176532
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.5018551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 3.9921346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.9919923254 19085960 2444490 15968718 11743745 17522070 18713872 19416960 19420014 11461765 16485898 16081117 19164858 18071297 12392966 16227642 12594235 16781746 16393943 11529661 10663392 11421492 10774834 11834606 15619225 16109766 19370779 12705907 17562736 16177239 12153990 10915739 12540782 11287661 11739529 14986274 14550746 17906064 12958197 19739265 14725611
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1420426865
MESH:D005234 Fatty Liver Cyclosporine 8.8219224547
MESH:D005234 Fatty Liver pirinixic acid 8.8220131406 19236843
MESH:D005355 Fibrosis Cyclosporine 3.6212168785 12639820
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 3.4819772884 19176532 16221962 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 6.418314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.3016705839
MESH:D007680 Kidney Neoplasms Cyclosporine 8.3012371664
OMIM:236792 L-2-HYDROXYGLUTARIC ACIDURIA marker/mechanism
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.6916610002 19460945 11587558 19784758 12587719 12969438 16611625 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5816871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.777678174
MESH:D008113 Liver Neoplasms pirinixic acid 4.7716377806 20007298 15890375
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.746135515 2876786 2876784
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 2,6-dinitrotoluene 4.407678174 18551238
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 2,6-dinitrotoluene 3.7816049721
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 2,6-dinitrotoluene 2.7618551238
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.4016049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.8610091137
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
Pathway ID Pathway Name
KEGG:00650 Butanoate metabolism
REACT:1046 Pyruvate metabolism and Citric Acid (TCA) cycle
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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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