AutismKB 2.0

Annotation Detail for AMDHD2


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Basic Information Top
Gene Symbol:AMDHD2 ( - )
Gene Full Name: amidohydrolase domain containing 2
Band: 16p13.3
Quick LinksEntrez ID:51005; OMIM: NA; Uniprot ID:NAGA_HUMAN; ENSEMBL ID: ENSG00000162066; HGNC ID: 24262
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6517N-acetylglucosamine degradation II
GLCMANNANAUT-PWYsuperpathway of N-acetylglucosamine, N-acetylmannosamine and N-acetylneuraminate degradation
GLUAMCAT-PWYN-acetylglucosamine degradation I
Pathway IDPathway Name
hsa00520Amino sugar and nucleotide sugar metabolism
No data
No data
Pathway IDPathway Name
P02756N-acetylglucosamine metabolism
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of AMDHD2 mRNAaffects expression 17562736
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of AMDHD2 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of AMDHD2 mRNAincreases expression 19482888
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 4.326195326
MESH:D018248 Adenoma, Liver Cell Phenobarbital 4.8617620307
MESH:D000799 Angioedema Acetaminophen 4.9110982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 3.043084413
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 3.0420007298 1701930 20935162 17173139 6705139
MESH:D002386 Cataract Acetaminophen 2.8310977129
MESH:D002493 Central Nervous System Diseases Phenobarbital 5.024080065
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6819085960 16109766 17522070 16781746 19923254 10915739 12958197 19416960 19164858 18713872 15968718 11739529 12594235 12705907 2444490 11461765 11834606 16081117 14986274 18071297 16227642 11743745 16177239 11287661 11421492 19739265 12153990 17906064 11529661 14725611 12392966 16485898 10663392 10774834 19370779 17562736 15619225 14550746 19420014 12540782 16393943
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 5.1719426721
MESH:D004421 Dystonia Phenobarbital 4.611851702
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.873659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.9411558140 3922381
MESH:D004827 Epilepsy Phenobarbital 3.1020417680
MESH:D004832 Epilepsy, Absence Phenobarbital 4.016401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 5.027750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.903659116
MESH:D005756 Gastritis Acetaminophen 4.7416983495
MESH:D006529 Hepatomegaly Phenobarbital 4.2516109766
MESH:D006930 Hyperalgesia Acetaminophen 3.1116870215
MESH:D007674 Kidney Diseases Acetaminophen 2.4412587719 15629191
MESH:D008103 Liver Cirrhosis Phenobarbital 3.1221047994
MESH:D008107 Liver Diseases Acetaminophen 4.2519784758 12969438 12587719 16611625 16610002 19460945 11587558 19014921
MESH:D008107 Liver Diseases Phenobarbital 4.2519363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.7416871587 17185352
MESH:D008113 Liver Neoplasms Phenobarbital 2.4519812893 8742319 19482888 15975961 21047994 19073162
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.971399818 17172636 2563599 18308698 6150874
MESH:D008546 Melanoma, Experimental Acetaminophen 4.3319513568
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.3617484760
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.3118514411
MESH:D010018 Osteomalacia Phenobarbital 5.2517016548
MESH:D010146 Pain Acetaminophen 2.8216870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.6216965848
MESH:D011230 Precancerous Conditions Phenobarbital 4.092563599
MESH:D019310 Pseudolymphoma Phenobarbital 5.5612752131
MESH:D012640 Seizures Phenobarbital 3.0116876388 4039156 11442880 3137016
MESH:D003294 Seizures, Febrile Phenobarbital 5.716407741
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.431399818
MESH:D014581 Urticaria Acetaminophen 3.5810982225
Pathway ID Pathway Name
KEGG:00520 Amino sugar and nucleotide sugar metabolism
Pharmacogenomics Knowledge Base Top
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  (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


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