AutismKB 2.0

Annotation Detail for ALG12


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ALG12 ( CDG1G,ECM39,MGC111358,MGC3136,PP14673,hALG12 )
Gene Full Name: asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)
Band: 22q13.33
Quick LinksEntrez ID:79087; OMIM: 607144; Uniprot ID:ALG12_HUMAN; ENSEMBL ID: ENSG00000182858; HGNC ID: 19358
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00510N-Glycan biosynthesis
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of proteins
No data
No data
Pathway IDPathway Name
500549Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of glycan/glycoprotein metabolism
H00118Congenital disorders of glycosylation (CDG) type I
Genetic disorders
No data
No data
No data
Desease Name
Congenital disorder of glycosylation, type Ig
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of ALG12 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of ALG12 mRNAaffects expression 21346803
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of ALG12 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of ALG12 mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone results in increased expression of ALG12 mRNAincreases expression 19774075
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of ALG12 mRNAdecreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 10.077525203
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 10.0714514962 15322242 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.1120041841 18218290 18057881
MESH:D001281 Atrial Fibrillation Amiodarone 4.1318651412 19698954
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Amiodarone 10.1519483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.1512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7316705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7316705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.733084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218670907 18850075 16120746
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9815710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.5518974383
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 7.9814694615
MESH:D002386 Cataract Acetaminophen 7.9810977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.986135515
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2116354765 15668235 12621046 15340226 8697196
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 10.1515095906
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 10.1514669216 17141729
MESH:C535745 Congenital disorder of glycosylation type 1G marker/mechanism
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.3218551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.3218551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 16.3121346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 16.3118551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 16.3121346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 16.3119739265 17906064 10915739 19420014 11743745 19923254 11461765 19085960 19416960 14986274 11287661 11421492 18071297 16081117 12705907 11834606 11529661 2444490 11739529 15619225 16781746 17522070 14725611 12594235 19370779 16177239 10774834 15968718 14550746 19164858 12540782 12958197 12153990 16227642 18713872 16109766 16393943 12392966 10663392 16485898 17562736
MESH:D056486 Drug-Induced Liver Injury Amiodarone 16.3115265979 18218290
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 16.3120420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4215322242 18230668 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3310568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Amiodarone 3.8414986274
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4711294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Amiodarone 9.9615265979
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.9612621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5718606429 16959395 16354765 8697196 15340226
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006937 Hypercholesterolemia Amiodarone 4.208137927 9751232
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D007037 Hypothyroidism Amiodarone 4.9318020914 17991464
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3615629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.2716705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.2716705839
MESH:D008064 Lipidoses Amiodarone 3.7315342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Acetaminophen 1.6912587719 12969438 16610002 19784758 11587558 16611625 19460945 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5417185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.707678174
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7016984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.342876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.3412151625
MESH:D008133 Long QT Syndrome Amiodarone 3.8215350150 11989578 17391786
MESH:D008171 Lung Diseases Amiodarone 3.5712587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.0018516814
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D009181 Mycoses Amiodarone 5.4212754197 17974566
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.9418551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.9418551238 7678174
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 16.9916049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 16.9916049721
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 16.9914694615
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511399792 11222880 11896295 11118676
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9511597910 12490602 12832656
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012640 Seizures 2,4-dinitrotoluene 6.5618551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.5618551238
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.5518724381
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013276 Stomach Ulcer Amiodarone 3.6418087811
MESH:D013610 Tachycardia Amiodarone 4.6711238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.5719225199
MESH:D013959 Thyroid Diseases Amiodarone 13.8519731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 13.8512697716
MESH:D013971 Thyrotoxicosis Amiodarone 5.2818020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.6517467628 11989578
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.3616049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.3616049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 13.5810091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 13.5810091137
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:17015 Metabolism of proteins
KEGG:00510 N-Glycan biosynthesis
Pharmacogenomics Knowledge Base Top
Drug Bank Top

Simple Query:


  (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