AutismKB 2.0

Annotation Detail for GNE


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GNE ( DMRV,GLCNE,IBM2,NM,Uae1 )
Gene Full Name: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Band: 9p13.3
Quick LinksEntrez ID:10020; OMIM: 603824; Uniprot ID:GLCNE_HUMAN; ENSEMBL ID: ENSG00000159921; HGNC ID: 23657
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6138CMP-N-acetylneuraminate biosynthesis I (eukaryotes)
GLCMANNANAUT-PWYsuperpathway of N-acetylglucosamine, N-acetylmannosamine and N-acetylneuraminate degradation
PWY0-1324N-acetylneuraminate and N-acetylmannosamine degradation
Pathway IDPathway Name
hsa00520Amino sugar and nucleotide sugar metabolism
hsa01100Metabolic pathways
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Lysosomal storage diseases
H00147Sialuria
Genetic disorders
Desease IDDesease Name
1740Alzheimer's disease
2115Muscular dystrophies
2135Osteitis deformans
Desease Name
CHEMDEPENDENCY
smoking cessation
No data
Desease Name
Nonaka myopathy
Inclusion body myopathy, autosomal recessive
Sialuria
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of GNE mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of GNE mRNAaffects expression 16483693
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 GNE mRNAdecreases expression 20382639
D020111 Chlorodiphenyl (54% Chlorine) Chlorodiphenyl (54% Chlorine) results in decreased expression of GNE mRNAdecreases expression 18178546
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of GNE mRNAaffects cotreatment|affects expression 17602206
D004041 Dietary Fats Dietary Fats results in decreased expression of GNE mRNAdecreases expression 15238619
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of GNE mRNAaffects cotreatment|affects expression 17602206
D005419 Flavonoids Flavonoids results in decreased expression of GNE mRNAdecreases expression 18035473
D005472 Fluorouracil Fluorouracil results in decreased expression of GNE proteindecreases expression 15352031
D005472 Fluorouracil GNE protein affects the susceptibility to Fluorouracilaffects response to substance 15352031
D008727 Methotrexate GNE protein affects the susceptibility to Methotrexateaffects response to substance 16217747
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in decreased expression of GNE mRNAdecreases expression 17616710
D010634 Phenobarbital Phenobarbital results in increased expression of GNE mRNAincreases expression 19270015
C006253 pirinixic acid NCF1 protein inhibits the reaction [pirinixic acid results in decreased expression of GNE mRNA]decreases expression|decreases reaction 17950772
C006253 pirinixic acid pirinixic acid results in decreased expression of GNE mRNAdecreases expression 17950772
17426115
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of GNE mRNAdecreases expression 19465110
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of GNE mRNAdecreases expression 16054898
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Methotrexate 14.8012039119
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 14.806195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 14.8015322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.6418287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.1718653653
MESH:D000230 Adenocarcinoma Fluorouracil 2.4417638652
MESH:D000236 Adenoma Diethylnitrosamine 2.8810737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 25.6119061943 19052882 18056438 16434500 17162532 17620307
MESH:D018248 Adenoma, Liver Cell Phenobarbital 25.6117620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 25.6116434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 25.6116835633
MESH:D000740 Anemia Fluorouracil 8.8517963324 15504547 16511603
MESH:D000740 Anemia Tetrachlorodibenzodioxin 8.8511748828
MESH:D000799 Angioedema Acetaminophen 3.9410982225
MESH:D001161 Arteriosclerosis Dietary Fats 3.9615238619
MESH:D001172 Arthritis, Rheumatoid Methotrexate 3.1117286800
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 8.9519483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.9512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8915340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8015746008
MESH:D001943 Breast Neoplasms Dietary Fats 2.3620435547
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.3617474063
MESH:D001943 Breast Neoplasms Fluorouracil 2.3619217205 18608205 15136595 16557594 18357371 16595493 16110121
MESH:D001943 Breast Neoplasms Methotrexate 2.3616978400
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.3620435547
MESH:D002276 Carcinoid Tumor Fluorouracil 4.7616051944
MESH:D002277 Carcinoma Fluorouracil 8.3317121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.3316835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.643084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 6.643084413 19701751 20524982 18210153 16540662 16288022 16830150 10672840 19394651 17173139 20432363 18393292 18978308 19539802 19822196 17978847 17428255 19171122 10737359 17138121 18691550 20727157 18056438 17055752 19418558 16502159 3581430 18506893 18665156 16878318 19519916 18788625 11831363 16328049 20007298 20514400 18494052 19052882 18785209 17761372 17162532 16935385 16698587 19919837 21159647 19208518 19335982 20214788 18971187 16569478 16807293 20101231 19107877 20084675 20935162 16779866 20512989 19383236 16681979
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 6.6418930000 16332177 16799960 17045692 17088986 17971768
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 6.6420007298 17173139 6705139 20935162 1701930
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0418695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5018986760 16757204 16280240 17066447
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3916120746 18670907 18850075
MESH:D002386 Cataract Acetaminophen 2.6110977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 6.8020889678
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 6.807505956 21159647 2727394 17174075
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.324080065
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 9.4919052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.4916835633
MESH:D002779 Cholestasis pirinixic acid 2.8619176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1216354765 15340226 15668235 12621046 8697196
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2417287894 16510598 18772588 15001691 16340194 17725105 17172411 17169374 17016597 17018589
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0017454858 17695437 17401013 16282729 18509181 16524972 16331619 18448328 18802399 16391804 15148649 18949393 16303861 17594712 18383874 17255274 20501625 14970324 15289873 18288408 17094418 17016601
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1117141729 14669216
MESH:D019465 Craniofacial Abnormalities Methotrexate 2.7712039119 9562676
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.7715322242 10048152 20055451
MESH:D003550 Cystic Fibrosis Methotrexate 4.2919747007
MESH:D007644 Darier Disease Fluorouracil 4.8716733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4518249437
MESH:D003882 Dermatomyositis Methotrexate 5.1920191521
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.2620387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.2617107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.1212153990 2444490 10663392 12594235 16109766 12540782 16227642 19420014 14986274 18713872 16177239 19164858 14725611 11529661 18071297 12392966 12958197 16393943 11461765 19370779 10774834 14550746 19739265 17562736 17906064 16485898 12705907 15619225 19085960 11743745 10915739 19923254 16081117 11739529 19416960 16781746 17522070 15968718 11421492 11287661 11834606
MESH:D056486 Drug-Induced Liver Injury Chlorodiphenyl (54% Chlorine) 9.1217851650
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 9.1219107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.1220420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1919426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8011462148
MESH:D050171 Dyslipidemias Dietary Fats 3.4918367378
MESH:D004421 Dystonia Phenobarbital 4.061851702
MESH:D004487 Edema pirinixic acid 6.7212083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.7211000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0016714409 18230668 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.0710568697 9294722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.183659116
MESH:D004828 Epilepsies, Partial Phenobarbital 3.973922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.9120417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.596401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.327750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.103659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.2116302075
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4120426865
MESH:D004938 Esophageal Neoplasms Fluorouracil 7.4116481741 16337965 17638652 16785472 15173087
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 7.4115547733 15547721 15878914 15623463 16510608 15150132 15264214 16704527 16805852
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0511564622
MESH:D005234 Fatty Liver Dietary Fats 13.4319551842 17967931 18296743 19004024
MESH:D005234 Fatty Liver Diethylnitrosamine 13.4321071580 20387270
MESH:D005234 Fatty Liver pirinixic acid 13.4319236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5311858732
MESH:D005355 Fibrosis Dietary Fats 8.8718296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.8720067830
MESH:D005756 Gastritis Acetaminophen 3.7716983495
MESH:D005910 Glioma Fluorouracil 2.8916145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6910696789
MESH:D006086 Graft vs Host Disease Methotrexate 5.2216518429
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.4215102660 15162350 18337622
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3611294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.5720558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3911000095
MESH:D006529 Hepatomegaly Phenobarbital 14.8216109766
MESH:D006529 Hepatomegaly pirinixic acid 14.8218467677 16221962 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 14.8216120746 12621046 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1416354765 8697196 16959395 15340226 18606429
MESH:D006930 Hyperalgesia Acetaminophen 2.7416870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.6521332399
MESH:D006943 Hyperglycemia pirinixic acid 3.2320558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.6721332399
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9218850075 18670907
OMIM:600737 INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE marker/mechanism
MESH:D007249 Inflammation Dietary Fats 12.1920412841
MESH:D007249 Inflammation Diethylnitrosamine 12.1918785209
MESH:D007249 Inflammation Flavonoids 12.1917296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 12.1912200463 12878042
MESH:D007333 Insulin Resistance Dietary Fats 7.3618457598 11836018
MESH:D007333 Insulin Resistance pirinixic acid 7.3616306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3916580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2315629191 12587719
MESH:D007680 Kidney Neoplasms Fluorouracil 3.3516985049
MESH:D007805 Language Development Disorders Methotrexate 5.169562676
MESH:D008103 Liver Cirrhosis Dietary Fats 16.0418296743
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 16.0418522880 18407596 20032147 19638242 18665156
MESH:D008103 Liver Cirrhosis Methotrexate 16.0414986274
MESH:D008103 Liver Cirrhosis Phenobarbital 16.0421047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1515474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1512878042
MESH:D008107 Liver Diseases Acetaminophen 6.5612969438 16610002 19784758 16611625 19460945 12587719 19014921 11587558
MESH:D008107 Liver Diseases Diethylnitrosamine 6.5617034775
MESH:D008107 Liver Diseases Phenobarbital 6.5619363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2916871587 17185352
MESH:D008113 Liver Neoplasms Clofibric Acid 18.2517602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 18.2519499222 18644402 19294768 20492335 20137499 15885732 12771043 20583210 12112319 19090486 19690152 16942905 19812893 20405173 21278145 10737359 19426721 21047994 20452335 19427195 19638242 20434301 18754104 2422723 21167192 20118626 20101389 19850985 18648771 9163691 21071580 19256749 18977376 18978307 19254457 19833225 19642983 19073162 15175105 2862719 19551842 19996281 19255062 20501860
MESH:D008113 Liver Neoplasms Fluorouracil 18.2517045692 18383874 15113037 16603448
MESH:D008113 Liver Neoplasms Phenobarbital 18.2519812893 19482888 8742319 15975961 21047994 19073162
MESH:D008113 Liver Neoplasms pirinixic acid 18.2520007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 18.2516984957
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 10.0018253720 19009564 18775883 18544905 18282651 18079962 17942915 19539802 2563599 16267830 17174075 18308698 19004024 21159647 9362446 3124819 18164116 18093689 19519916 17854601 16842330 19126423
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 10.0018308698 17172636 2563599 6150874 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.0012151625
MESH:D017563 Lung Diseases, Interstitial Methotrexate 5.1218516814
MESH:D008175 Lung Neoplasms Diethylnitrosamine 3.446695378 20970405 20512841 21163286
MESH:D008175 Lung Neoplasms Fluorouracil 3.4415246190
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4411884234 19555203
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 4.8715086387
MESH:D008223 Lymphoma Methotrexate 3.9917352296
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6419513568
MESH:D009062 Mouth Neoplasms Fluorouracil 3.6716757204 18986760
MESH:D052016 Mucositis Methotrexate 5.3617488658
MESH:D009135 Muscular Diseases pirinixic acid 3.5816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1619151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0612213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9916411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.5617484760
MESH:D018979 Myositis, Inclusion Body marker/mechanism 17261181
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.593581430 9029167
MESH:D009369 Neoplasms Fluorouracil 5.0718600527 18239605 16928823
MESH:D009369 Neoplasms pirinixic acid 5.0717405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.2814600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.3318514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.3320387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.2120387270
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.4716436463
OMIM:605820 NONAKA MYOPATHY marker/mechanism
MESH:D009765 Obesity Dietary Fats 4.4720132043 21332399 19632207 17217161 16723640 11836018 20518802 18674790 18457598
MESH:D009765 Obesity pirinixic acid 4.4720558911
MESH:D010018 Osteomalacia Phenobarbital 4.4517016548
MESH:D010146 Pain Acetaminophen 2.4316870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 8.7416540662
MESH:D010190 Pancreatic Neoplasms Fluorouracil 8.7416500647 16929163 19003803 15113037
MESH:D010190 Pancreatic Neoplasms Phenobarbital 8.7416965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3512520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6218163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.252563599
MESH:D011230 Precancerous Conditions Phenobarbital 9.252563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.2711896295 11118676 11222880 11399792
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.4119082440 18626508
MESH:D019310 Pseudolymphoma Phenobarbital 4.5912752131
MESH:D011565 Psoriasis Methotrexate 3.4517410198
MESH:D012004 Rectal Neoplasms Fluorouracil 4.0618722050 18286688 16160472 15538739
MESH:D051437 Renal Insufficiency Methotrexate 4.7817352296
MESH:D015427 Reperfusion Injury pirinixic acid 2.4119058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9018990726
MESH:D012640 Seizures Phenobarbital 2.734039156 3137016 11442880 16876388
MESH:D003294 Seizures, Febrile Phenobarbital 4.906407741
MESH:D029461 Sialic Acid Storage Disease marker/mechanism
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0716192470
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 3.4818456281
MESH:D013274 Stomach Neoplasms Fluorouracil 3.4817522103 16951190 16424979 19084572 18396642 15786421 18567086 17172411 19015929 17498489
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 3.4817575124 12958204
MESH:D013576 Syndactyly Methotrexate 5.109562676
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0012697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.327505956
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.321399818
MESH:D014062 Tongue Neoplasms Fluorouracil 4.0416280240
MESH:D014581 Urticaria Acetaminophen 3.0310982225
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 3.9316803524
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6912125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3515886252
MESH:D015430 Weight Gain Dietary Fats 3.7916723640
Pathway ID Pathway Name
KEGG:00520 Amino sugar and nucleotide sugar metabolism
KEGG:01100 Metabolic pathways
Pharmacogenomics Knowledge Base Top
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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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