AutismKB 2.0

Annotation Detail for POMGNT1


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Basic Information Top
Gene Symbol:POMGNT1 ( DKFZp761B182,FLJ20277,GNTI.2,MEB,MGAT1.2 )
Gene Full Name: protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
Band: 1p34.1
Quick LinksEntrez ID:55624; OMIM: 606822; Uniprot ID:PMGT1_HUMAN; ENSEMBL ID: ENSG00000085998; HGNC ID: 19139
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00514O-Mannosyl glycan biosynthesis
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of glycan/glycoprotein metabolism
H00120Dystroglycanopathy
Genetic disorders
No data
No data
No data
Desease Name
Muscular dystrophy-dystroglycanopathy
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C014211 2,3,7,8-tetrachlorodibenzofuran 2,3,7,8-tetrachlorodibenzofuran affects the expression of POMGNT1 mRNAaffects expression 18343893
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of POMGNT1 mRNAaffects expression 21346803
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of POMGNT1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of POMGNT1 mRNAaffects expression 17562736
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of POMGNT1 mRNAaffects expression 17555576
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in increased expression of POMGNT1 mRNAincreases expression 17616710
D013629 Tamoxifen Tamoxifen affects the expression of POMGNT1 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin affects the expression of POMGNT1 mRNAaffects expression 18343893
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of POMGNT1 mRNAincreases expression 15328365
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9214745880
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 9.637525203
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.6311752688 15322242 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9419103187 19115204 19410462 18815881 19142967 15565566 16273361 20135344 16202921 19189212 21152245 19288272 20859285 20544844 21138602 17261762 19200415 19221464 19059307 19084267 18855134 15668708 20005174 19487384 19289846 19155303 17242785 20390343 16873071 18629630 17440819 11161223 19066611 19189210 16818667 17893378 19244106 17049068 18425577 19011961 18821012 18997820 18351453 18984771 20065188
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9420435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8119066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.6916705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.693084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.6916924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8417572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918850075 16120746 18670907
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 7.8514694615
MESH:D002386 Cataract Acetaminophen 7.8510977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0516105132 15861022 17681005 17333356 11677210 17110522 16919318
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1915340226 8697196 16354765 15668235 12621046
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 9.9115095906
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 9.9114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.3218551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6719031437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6919279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.4921346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 9.4921346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.4916485898 19416960 16109766 12705907 15619225 12958197 19923254 12540782 17562736 11743745 10663392 11529661 12153990 17522070 18713872 11461765 12392966 16781746 19420014 17906064 2444490 14725611 16393943 10915739 19370779 15968718 16177239 14986274 12594235 16227642 10774834 19085960 16081117 18071297 19164858 11834606 11739529 14550746 11421492 19739265 11287661
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.4920420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2818230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.9012538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.9019031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1916202921 20544844 19155303 17893378
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2510568697 9294722
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.8216510608 15547733 16805852 15878914 15547721 15264214 15623463 15150132 16704527
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.5115345470
MESH:D005234 Fatty Liver Tamoxifen 8.5114986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3716709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5219069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2520067830
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital 2,3,7,8-tetrachlorodibenzofuran 7.3611294989
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.3611294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2015340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.428697196 15340226 16959395 18606429 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007249 Inflammation Tamoxifen 5.2619457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2612878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3215629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.0716705839
MESH:D007680 Kidney Neoplasms Tamoxifen 8.0718625569
MESH:D008064 Lipidoses Tamoxifen 3.3215342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3418564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3412878042
MESH:D008107 Liver Diseases Acetaminophen 1.6719784758 16611625 19014921 16610002 19460945 12587719 12969438 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4617185352 16871587
MESH:D008113 Liver Neoplasms Tamoxifen 4.6516684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6516984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2412151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.3018625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3011884234 19555203
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7614580682 19196722 11731420 16827153 19196723
MESH:D020149 Manganese Poisoning Tamoxifen 4.9219453300
MESH:D008545 Melanoma Tamoxifen 1.9112393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5215990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
OMIM:253280 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 marker/mechanism
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.2018551238
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6319393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5819410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3819189210 19200415 19196722
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0718514411
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.9016049721 12819281
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 9.9014694615
MESH:D010146 Pain Acetaminophen 2.5916870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311896295 11399792 11118676 11222880
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1115067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.6515861022 16919318
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012640 Seizures 2,4-dinitrotoluene 2.6818551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.8516709447
MESH:D013088 Spermatocele Tamoxifen 12.8516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.3819457130
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.3317575124 12958204
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.3116049721
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.3116712894 8653321 17572228
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.6510091137
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7815869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
Pathway ID Pathway Name
KEGG:00514 Other types of O-glycan biosynthesis
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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