AutismKB 2.0

Annotation Detail for D2HGDH


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Basic Information Top
Gene Symbol:D2HGDH ( D2HGD,FLJ42195,MGC25181 )
Gene Full Name: D-2-hydroxyglutarate dehydrogenase
Band: 2q37.3
Quick LinksEntrez ID:728294; OMIM: 609186; Uniprot ID:D2HDH_HUMAN; ENSEMBL ID: ENSG00000180902; HGNC ID: 28358
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
D-2-hydroxyglutaric aciduria
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of D2HGDH mRNAaffects expression 17562736
C019417 alpha-hydroxyglutarate D2HGDH protein results in increased metabolism of alpha-hydroxyglutarateincreases metabolic processing 15609246
C029743 alpha-ketoglutaric acid D2HGDH protein results in increased chemical synthesis of alpha-ketoglutaric acidincreases chemical synthesis 15609246
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000592 Amino Acid Metabolism, Inborn Errors marker/mechanism 15609246
MESH:D000799 Angioedema Acetaminophen 4.7110982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.8110977129
OMIM:600721 D-2-HYDROXYGLUTARIC ACIDURIA 1 marker/mechanism
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6812594235 15968718 19164858 12705907 12540782 17522070 2444490 11421492 19923254 14725611 17562736 16781746 16485898 17906064 11743745 18071297 11529661 11461765 10915739 19416960 14550746 12958197 11287661 16081117 19420014 14986274 19370779 10774834 10663392 11834606 12153990 16227642 18713872 16109766 15619225 12392966 19739265 16177239 11739529 16393943 19085960
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.9619426721
MESH:D005756 Gastritis Acetaminophen 4.5416983495
MESH:D006930 Hyperalgesia Acetaminophen 3.0616870215
MESH:D007674 Kidney Diseases Acetaminophen 2.4212587719 15629191
MESH:D008107 Liver Diseases Acetaminophen 1.7119784758 12587719 19460945 16610002 19014921 11587558 12969438 16611625
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6817185352 16871587
MESH:D008546 Melanoma, Experimental Acetaminophen 4.2219513568
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2618514411
MESH:D010146 Pain Acetaminophen 2.7716870215
MESH:D014581 Urticaria Acetaminophen 3.5010982225
Pathway ID Pathway Name
KEGG:00650 Butanoate metabolism
KEGG:00051 Fructose and mannose metabolism
KEGG:00591 Linoleic acid metabolism
KEGG:01100 Metabolic pathways
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