AutismKB 2.0

Annotation Detail for PMM2


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Basic Information Top
Gene Symbol:PMM2 ( CDG1,CDG1a,CDGS,PMM 2 )
Gene Full Name: phosphomannomutase 2
Band: 16p13.2
Quick LinksEntrez ID:5373; OMIM: 601785; Uniprot ID:PMM2_HUMAN; ENSEMBL ID: ENSG00000140650; HGNC ID: 9115
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-5659GDP-mannose biosynthesis
COLANSYN-PWYcolanic acid building blocks biosynthesis
Pathway IDPathway Name
hsa00520Amino sugar and nucleotide sugar metabolism
hsa01100Metabolic pathways
hsa00051Fructose and mannose metabolism
Pathway IDPathway Name
Metabolism of proteins
No data
Pathway IDPathway Name
P02752Mannose metabolism
No data
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 Ia
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of PMM2 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in increased expression of PMM2 mRNAincreases expression 20406850
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PMM2 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of PMM2 mRNAaffects expression 17562736
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of PMM2 mRNAdecreases expression 20382639
19150397
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PMM2 mRNAaffects expression 17555576
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of PMM2 mRNAaffects cotreatment|increases expression 17183730
C006253 pirinixic acid pirinixic acid results in increased expression of PMM2 mRNAincreases expression 17426115
D018038 Sodium Selenite Sodium Selenite results in increased expression of PMM2 mRNAincreases expression 18175754
D013629 Tamoxifen Tamoxifen affects the expression of PMM2 mRNAaffects expression 17555576
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of PMM2 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.8114745880
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.728875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1019490988
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.7216434500
MESH:D000550 Amblyopia Valproic Acid 5.5017688650
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.7117497229
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7615885639
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8618985861 19460635 17157402 16609825 20603192 18396377 18316065 18940202 17507914 18177632 18558336 17688650 15238991 18775368 19232924
MESH:D001714 Bipolar Disorder Valproic Acid 3.1517594078 20046352
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3219483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.518888407
MESH:D001943 Breast Neoplasms Tamoxifen 2.1921152245 18351453 20859285 20135344 21138602 18855134 16273361 20544844 18984771 19011961 19221464 19244106 17893378 15565566 19410462 15668708 19200415 19155303 18815881 19142967 19288272 19103187 20005174 18629630 19084267 16202921 16873071 11161223 16818667 19115204 19066611 19189210 17242785 19059307 19189212 19289846 17440819 20065188 20390343 18425577 19487384 17049068 18997820 18821012 17261762
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.7219066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.7416705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.7416705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.743084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.7416924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7817572228
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.036135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.0320889678
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7620734317
MESH:D002779 Cholestasis Ethinyl Estradiol 8.1717333356 15861022 17681005 16919318 17110522 16105132 11677210
MESH:D002779 Cholestasis pirinixic acid 8.1719176532
MESH:D019457 Chromosome Breakage Sodium Selenite 4.9715894690
MESH:C535739 Congenital disorder of glycosylation type 1A marker/mechanism
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.908888407 17688650 16575769
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.6318551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.6318551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5819031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9316285004
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6319279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 12.5121346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 12.5121346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.5114550746 12594235 15619225 11834606 17906064 16393943 11529661 14986274 10915739 16177239 12392966 11461765 12153990 16109766 2444490 19164858 19739265 16227642 19923254 11421492 19420014 15968718 11739529 17562736 11287661 16781746 11743745 16081117 12540782 14725611 18713872 19416960 10663392 12958197 10774834 19085960 18071297 19370779 12705907 16485898 17522070
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 12.5115131321
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 12.511733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004421 Dystonia Valproic Acid 4.231851702
MESH:D004487 Edema pirinixic acid 2.6512083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.6212538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.6219031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1516202921 17893378 20544844 19155303
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.373659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.183922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0120417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.746254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.517750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.303659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1120426865
MESH:D005234 Fatty Liver Ethinyl Estradiol 20.2415345470
MESH:D005234 Fatty Liver pirinixic acid 20.2420131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 20.2419224547 14986274
MESH:D005234 Fatty Liver Valproic Acid 20.2414986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3316709447
MESH:D005315 Fetal Diseases Valproic Acid 5.1516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.338888407 18558336
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.7614745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.4219069698
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.2119772884 19176532 16221962 18467677
MESH:D006849 Hydrocephalus Valproic Acid 5.1017688650
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.8416612254
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5917937319
MESH:D007249 Inflammation Tamoxifen 2.4319457130
MESH:D007333 Insulin Resistance pirinixic acid 7.6716306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.6714714311
MESH:D007674 Kidney Diseases Acetaminophen 2.2915629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.2616705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.2616705839
MESH:D007680 Kidney Neoplasms Tamoxifen 13.2618625569
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1716294345 17596541
MESH:D008064 Lipidoses Tamoxifen 3.2717567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.3615474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3618564211
MESH:D008107 Liver Diseases Acetaminophen 1.6619784758 12969438 16611625 19460945 11587558 19014921 12587719 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4017185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.737678174
MESH:D008113 Liver Neoplasms pirinixic acid 7.7320007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tamoxifen 7.7316684651
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.646135515 2876784 2876786
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.5317228818
MESH:D008175 Lung Neoplasms Tamoxifen 1.7418625569
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.2414737004
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.0019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7311731420 19196723 16827153 14580682 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 4.8119453300
MESH:D008545 Melanoma Tamoxifen 1.9019393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.4215990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008881 Migraine Disorders Valproic Acid 3.3118803445 18765137
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.208888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2417596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.1518551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.1518551238 7678174
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6019393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5619410462
MESH:D009369 Neoplasms pirinixic acid 2.0217405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.2619196722 19200415 19189210
MESH:D009436 Neural Tube Defects Valproic Acid 3.2316359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.4316049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.4316049721
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.0720603192
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.2518760546
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.2515067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.5515861022 16919318
MESH:D019310 Pseudolymphoma Valproic Acid 4.8111422049 12752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3619155313
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures 2,4-dinitrotoluene 10.4918551238
MESH:D012640 Seizures 2,6-dinitrotoluene 10.4918551238
MESH:D012640 Seizures Valproic Acid 10.493137016 15475178 11044598 14763951 1511512 17978042 11738929 16876388
MESH:D013088 Spermatocele Ethinyl Estradiol 12.4616709447
MESH:D013088 Spermatocele Tamoxifen 12.4616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.2819457130
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9119490988
MESH:D013226 Status Epilepticus Valproic Acid 4.8112833885
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D014178 Translocation, Genetic Valproic Acid 5.5017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.763119515
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.6416049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.6416049721
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.6417572228 16712894 8653321
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.868888407
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.8010091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.8010091137
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7114671159 15869587
Pathway ID Pathway Name
KEGG:00520 Amino sugar and nucleotide sugar metabolism
KEGG:00051 Fructose and mannose metabolism
KEGG:01100 Metabolic pathways
REACT:17015 Metabolism of proteins
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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