AutismKB 2.0

Annotation Detail for PGM1


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Basic Information Top
Gene Symbol:PGM1 ( GSD14 )
Gene Full Name: phosphoglucomutase 1
Band: 1p31.3
Quick LinksEntrez ID:5236; OMIM: 171900; Uniprot ID:PGM1_HUMAN; ENSEMBL ID: ENSG00000079739; HGNC ID: 8905
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
GLUCOSE1PMETAB-PWYglucose and glucose-1-phosphate degradation
PWY-5941glycogen degradation II
PWY-5767glycogen degradation III
PWY-842starch degradation
PWY-5661GDP-glucose biosynthesis
Pathway IDPathway Name
hsa00010Glycolysis / Gluconeogenesis
hsa00030Pentose phosphate pathway
hsa00230Purine metabolism
hsa00520Amino sugar and nucleotide sugar metabolism
hsa01100Metabolic pathways
hsa00052Galactose metabolism
hsa00500Starch and sucrose metabolism
Pathway IDPathway Name
Metabolism of carbohydrates
Pathway IDPathway Name
200172HIF-1-alpha transcription factor network
No data
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
type 1 diabetes
IMMUNE
Desease Name
Type 1 diabetes
Desease Name
Glycogen storage disease XIV
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of PGM1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PGM1 mRNAaffects expression 16483693
C006632 arsenic trioxide arsenic trioxide results in increased expression of PGM1 mRNAincreases expression 20458559
D002995 Clofibric Acid Clofibric Acid affects the expression of PGM1 mRNAaffects expression 17602206
D016572 Cyclosporine Cyclosporine results in decreased expression of PGM1 mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of PGM1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PGM1 mRNAaffects cotreatment|increases expression 17942748
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of PGM1 mRNAaffects cotreatment|increases expression 17183730
C031280 pyrazole pyrazole results in increased expression of PGM1 mRNAincreases expression 17945193
D018038 Sodium Selenite Sodium Selenite results in increased expression of PGM1 mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PGM1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PGM1 mRNAdecreases expression 18796159
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of PGM1 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.9715322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 8.978875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0719490988
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D000230 Adenocarcinoma arsenic trioxide 4.3911798837 19825857
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3914692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5716835633
MESH:D000550 Amblyopia Valproic Acid 5.4517688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.6817497229
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8618316065 18985861 20603192 18396377 15238991 16609825 17507914 18775368 19460635 18940202 18558336 19232924 18177632 17688650 17157402
MESH:D001714 Bipolar Disorder Valproic Acid 3.1417594078 20046352
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.4316206674
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.4312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.3115746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.318888407
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6920435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.4811589617
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.953084413
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 2.9511135700 16217749 15553829 14691202 15073043
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.0919014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.2512490120
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.6610977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.6212371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7520734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis Cyclosporine 8.1219486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.1216105132 11677210 16919318 17333356 15861022 17681005 17110522
MESH:D019457 Chromosome Breakage Sodium Selenite 4.9315894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1516354765 12621046 15340226 15668235 8697196
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1817141729 14669216
MESH:D023903 Coronary Restenosis arsenic trioxide 4.3512609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 3.8410525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.8420055451 15322242 10048152
MESH:D019465 Craniofacial Abnormalities Valproic Acid 3.8417688650 16575769 8888407
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.2415213294
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9016285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.4415968718 17562736 15619225 12594235 11287661 19416960 11421492 11743745 12958197 10663392 10774834 18071297 16177239 16485898 10915739 12392966 11834606 11529661 19085960 18713872 14986274 16393943 19420014 12705907 16081117 2444490 16109766 12153990 17522070 14725611 17906064 19923254 16227642 12540782 19739265 19164858 16781746 14550746 19370779 11461765 11739529
MESH:D056486 Drug-Induced Liver Injury pyrazole 12.4412499123
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 12.4415131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.4420420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 12.441733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D004421 Dystonia Valproic Acid 4.201851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1215322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3512538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.159294722 10568697
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.3317275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.133922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0020417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.716254150 6426943 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.477750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.263659116
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3412903497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver arsenic trioxide 19.9715073043
MESH:D005234 Fatty Liver Cyclosporine 19.9719224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 19.9715345470
MESH:D005234 Fatty Liver Valproic Acid 19.9714986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D005315 Fetal Diseases Valproic Acid 5.1016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.298888407 18558336
MESH:D005355 Fibrosis Cyclosporine 9.0712168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.0720067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.4216904648
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.418708960
OMIM:612934 GLYCOGEN STORAGE DISEASE XIV marker/mechanism
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4011294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0712621046 15340226 16120746
MESH:D006849 Hydrocephalus Valproic Acid 5.0617688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2616354765 8697196 18606429 15340226 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D006973 Hypertension Cyclosporine 5.1010903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1018850075 18670907
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.8016612254
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5717937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9212878042 12200463
MESH:D007333 Insulin Resistance Sodium Selenite 3.3614714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6615604871
MESH:D007674 Kidney Diseases Acetaminophen 6.0512587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.0518776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 2.8512371664
MESH:D007938 Leukemia arsenic trioxide 2.8915070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.9312560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5016972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5314633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.9019077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 3.9816968895 17050201 16467208 20471514 19850784
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 3.9817596541 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.309834237 17217047 17107899 11161223 19642359 19075265 16891316 15622746 11468182 15336539 19035177 17869043 15213294 16330433 16112521 12679006 16823087 15748426 12712474 16331271 17712046 19225113 17649720 12018890 16966277
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5116882451
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Acetaminophen 1.6619460945 19014921 16611625 12969438 11587558 19784758 12587719 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3717185352 16871587
MESH:D008113 Liver Neoplasms arsenic trioxide 7.7514682389
MESH:D008113 Liver Neoplasms Clofibric Acid 7.7517602206
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7516984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.0820377131
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0812151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4615213294
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.4817228818
MESH:D008175 Lung Neoplasms arsenic trioxide 2.3311798837 19825857
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3319555203 11884234
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.2114737004
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0116801185
MESH:D008881 Migraine Disorders Valproic Acid 3.2918765137 18803445
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2014977855 11468182 15949261 19417148 19549372
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.178888407
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.8918349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 7.6716105982 16882451
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 7.6717596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.1216624393
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4119348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3714600291
MESH:D009436 Neural Tube Defects arsenic trioxide 7.6210525206
MESH:D009436 Neural Tube Defects Valproic Acid 7.6216359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9918514411
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4419769630 16624393 12452020
MESH:D010146 Pain Acetaminophen 2.5016870215
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5715580305
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010235 Paraganglioma arsenic trioxide 4.3119927285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.3512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.1211118676 11399792 11222880 11896295
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 10.1220603192
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.3019131511
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3018760546
MESH:D011537 Pruritus Ethinyl Estradiol 3.5115861022 16919318
MESH:D019310 Pseudolymphoma Valproic Acid 4.7612752131 11422049
MESH:D011565 Psoriasis Cyclosporine 2.2716882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3219155313
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.1216646077
MESH:D012559 Schizophrenia Valproic Acid 2.0819110320 15737665
MESH:D012640 Seizures Valproic Acid 2.833137016 16876388 17978042 11738929 11044598 15475178 14763951 1511512
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1616709447
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8919490988
MESH:D013226 Status Epilepticus Valproic Acid 4.7612833885
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D013733 Testicular Diseases pyrazole 5.016499806
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.1919014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.1515213294
MESH:D014178 Translocation, Genetic Valproic Acid 5.4517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.713119515
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 2.5312845720 20435036 12973940 11780464
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.828888407
MESH:D014581 Urticaria Acetaminophen 3.1210982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4614692618
MESH:D014605 Uveitis Cyclosporine 4.201336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.6617120751
Pathway ID Pathway Name
KEGG:00520 Amino sugar and nucleotide sugar metabolism
KEGG:00052 Galactose metabolism
KEGG:00010 Glycolysis / Gluconeogenesis
KEGG:01100 Metabolic pathways
REACT:474 Metabolism of carbohydrates
KEGG:00030 Pentose phosphate pathway
KEGG:00230 Purine metabolism
KEGG:00500 Starch and sucrose metabolism
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33242
    • No data
    No data
    Releated drug ID Related drug Name
    PA449014cisplatin
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB02835 - Alpha-D-Glucose 1,6-Bisphosphate
    DB04397 - Alpha-D-Glucose-1-Phosphate-6-Vanadate
    No data
    No data
    No data

    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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