AutismKB 2.0

Annotation Detail for POMT1


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Basic Information Top
Gene Symbol:POMT1 ( FLJ37239,LGMD2K,RT )
Gene Full Name: protein-O-mannosyltransferase 1
Band: 9q34.13
Quick LinksEntrez ID:10585; OMIM: 607423; Uniprot ID:POMT1_HUMAN; ENSEMBL ID: ENSG00000130714; HGNC ID: 9202
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
Desease IDDesease Name
1832Congenital abnormality
No data
No data
Desease Name
Muscular dystrophy-dystroglycanopathy
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of POMT1 mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of POMT1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of POMT1 mRNAaffects expression 16483693
C006632 arsenic trioxide arsenic trioxide results in decreased expression of POMT1 mRNAdecreases expression 20458559
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of POMT1 mRNAaffects cotreatment|increases expression 17942748
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of POMT1 geneincreases mutagenesis 16495775
C006253 pirinixic acid pirinixic acid results in increased expression of POMT1 mRNAincreases expression 18301758
C025299 polyphenols polyphenols results in decreased expression of POMT1 mRNAdecreases expression 16293270
D014284 Triiodothyronine Triiodothyronine results in increased expression of POMT1 mRNAincreases expression 15953391
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of POMT1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0811752688 14514962 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma arsenic trioxide 4.4111798837 19825857
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.4114692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 7.303712494
MESH:D000236 Adenoma Ethylnitrosourea 7.306695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.7116434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.7116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7615885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.2811289319 1440618
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 16.3116206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 16.3119483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 16.3112125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D001927 Brain Diseases Ethylnitrosourea 5.0414991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.4518412241 16651633 15144691 16436596 16357521
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6920435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5111589617
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.667296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.663084413
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 4.6615073043 14691202 11135700 15553829 16217749
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.1419014326
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.757296757
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.2812490120
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4518670907 16120746 18850075
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.397505956
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 7.3916003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.2517160924
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 14.129022650 19486331
MESH:D002779 Cholestasis Ethinyl Estradiol 14.1217681005 17333356 16105132 15861022 16919318 17110522 11677210
MESH:D002779 Cholestasis pirinixic acid 14.1219176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.168697196 12621046 16354765 15668235 15340226
MESH:D003110 Colonic Neoplasms polyphenols 2.7016293270
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2117141729 14669216
MESH:D023903 Coronary Restenosis arsenic trioxide 4.3812609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.5110525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5110048152 15322242 20055451
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.2815213294
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.0118759878 11906362 8156756 14531868 12868966 2524372 8970840 11298694
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.672952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 9.3618648102 18692083 9653073 18289764 9328219 9022650 6482804 7440962 8291058 6679447 16192314 1440618 11289319
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.3616393943 14725611 11421492 18713872 16227642 12705907 2444490 16109766 16485898 19739265 11739529 18071297 10663392 16177239 17562736 11287661 12958197 17906064 19370779 15968718 11743745 10915739 19164858 16781746 15619225 12153990 17522070 16081117 19923254 19416960 12392966 19085960 12540782 11461765 11529661 14986274 19420014 12594235 14550746 10774834 11834606
MESH:D056486 Drug-Induced Liver Injury polyphenols 9.3619370779
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.3620420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.2518357618
MESH:D004487 Edema pirinixic acid 7.1112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.1111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3812538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1810568697 9294722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.603581430
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.6012903497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver arsenic trioxide 14.0815073043
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.0815345470
MESH:D005234 Fatty Liver pirinixic acid 14.0819236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.286705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1620067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.4616904648
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D005909 Glioblastoma Ethylnitrosourea 3.9416436596
MESH:D005910 Glioma Ethylnitrosourea 3.5516357521 18412241 16651633
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.227505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4111294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.716705139
MESH:D006529 Hepatomegaly pirinixic acid 8.9916221962 18467677 19176532 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.9915340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3118606429 8697196 16354765 15340226 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.1515034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5917937319
MESH:D007249 Inflammation polyphenols 5.4216366677
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.4212878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.289022650 8074119
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2912587719 15629191
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 8.196582329
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 8.1917379185
MESH:D007938 Leukemia arsenic trioxide 2.9115070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.9717077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5416972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5514633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.9319077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1617050201 19850784 16467208 20471514 16968895
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3216891316 15748426 9834237 15336539 12712474 17107899 16823087 11468182 15213294 11161223 17649720 17217047 17712046 12679006 19075265 12018890 15622746 19642359 19225113 16330433 19035177 16966277 17869043 16112521 16331271
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5516882451
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3015034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1815474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1812878042
MESH:D008107 Liver Diseases Acetaminophen 4.2819784758 16611625 16610002 12969438 11587558 12587719 19460945 19014921
MESH:D008107 Liver Diseases polyphenols 4.2816698588
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4017185352 16871587
MESH:D008113 Liver Neoplasms arsenic trioxide 7.6914682389
MESH:D008113 Liver Neoplasms pirinixic acid 7.6920007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.6916984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.403712494 598648 6587162 1399818
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 10.4020377131
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.4012151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4815213294
MESH:D008175 Lung Neoplasms arsenic trioxide 3.5919825857 11798837
MESH:D008175 Lung Neoplasms Ethylnitrosourea 3.5916271038 17703301 6695378 16019985
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5911884234 19555203
MESH:D008223 Lymphoma Ethylnitrosourea 4.0615790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.2615375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 3.6118041768 10767621 10838139
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008579 Meningioma Ethylnitrosourea 6.2517943659
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2219417148 19549372 15949261 14977855 11468182
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
OMIM:609308 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 marker/mechanism
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.9418349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2316105982 16882451
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.1616624393
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.533581430
MESH:D009369 Neoplasms pirinixic acid 2.0217405874
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.6216707424
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.616679447
MESH:D009436 Neural Tube Defects arsenic trioxide 7.6110525206
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.6516003739 17160924 16651423
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.584026338 6482804
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.2517160924
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.283988306
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4516624393 19769630 12452020
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5815580305
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.707296757
MESH:D010235 Paraganglioma arsenic trioxide 4.3519927285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.736228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4311222880 11118676 11399792 11896295
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.2419131511
MESH:D011537 Pruritus Ethinyl Estradiol 3.5516919318 15861022
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.503692021
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.1616646077
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1116192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2116709447
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.5217997062
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.4015790496
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.593712494 6582329 1399818 6587162 7505956
MESH:D013964 Thyroid Neoplasms arsenic trioxide 7.5919014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.2015213294
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.288074119
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.2811780464 12845720 12973940 20435036
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7114671159 15869587
MESH:D058494 Walker-Warburg Syndrome marker/mechanism
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
Pathway ID Pathway Name
KEGG:00514 Other types of O-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


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