AutismKB 2.0

Annotation Detail for GM2A


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Basic Information Top
Gene Symbol:GM2A ( SAP-3 )
Gene Full Name: GM2 ganglioside activator
Band: 5q33.1
Quick LinksEntrez ID:2760; OMIM: 613109; Uniprot ID:SAP3_HUMAN; ENSEMBL ID: ENSG00000196743; HGNC ID: 4367
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Lysosomal storage diseases
H00124GM2 gangliosidoses
Genetic disorders
No data
No data
No data
Desease Name
GM2-gangliosidosis, AB variant
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of GM2A mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of GM2A mRNAincreases expression 18648102
D000643 Ammonium Chloride Ammonium Chloride affects the expression of GM2A mRNAaffects expression 16483693
C004541 biochanin A biochanin A results in decreased expression of GM2A mRNAdecreases expression 12111696
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of GM2A mRNAaffects expression 17484886
D016572 Cyclosporine Cyclosporine results in decreased expression of GM2A mRNAdecreases expression 20106945
D004041 Dietary Fats Dietary Fats results in decreased expression of GM2A mRNAdecreases expression 18042831
D004958 Estradiol Estradiol results in decreased expression of GM2A mRNAdecreases expression 14664709
D000431 Ethanol Ethanol results in increased expression of GM2A mRNAincreases expression 15513904
C029938 nickel sulfate nickel sulfate results in decreased expression of GM2A mRNAdecreases expression 16780908
C029938 nickel sulfate nickel sulfate results in increased expression of GM2A mRNAincreases expression 16780908
C041786 palm oil palm oil results in decreased expression of GM2A mRNAdecreases expression 18042831
C023036 perfluorooctanoic acid perfluorooctanoic acid results in decreased expression of GM2A mRNAdecreases expression 17681415
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of GM2A mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid results in decreased expression of GM2A mRNAdecreases expression 17426115
17950772
20059764
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in decreased expression of GM2A mRNA]decreases expression|increases reaction 20059764
17950772
D014635 Valproic Acid Valproic Acid results in increased expression of GM2A mRNAincreases expression 19101580
C025643 vinclozolin vinclozolin affects the expression of GM2A mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Ethanol 8.8717676605 18926900
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 8.878875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 3.9619490988
MESH:D000138 Acidosis Ammonium Chloride 10.6418287403
MESH:D000138 Acidosis Ethanol 10.6411192467
MESH:D055371 Acute Lung Injury nickel sulfate 9.2519131640 12718980 11954676 16100012
MESH:D055371 Acute Lung Injury pirinixic acid 9.2518653653
MESH:D000230 Adenocarcinoma Estradiol 2.1011473722
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.773712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.5316434500
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 5.3815451040 15451039
MESH:D000550 Amblyopia Valproic Acid 5.3017688650
MESH:D000853 Anophthalmos Ethanol 4.8615513904
MESH:D001008 Anxiety Disorders Ethanol 14.9911141031
MESH:D001008 Anxiety Disorders Valproic Acid 14.9917497229
MESH:D001008 Anxiety Disorders vinclozolin 14.9919015723
MESH:D001161 Arteriosclerosis Dietary Fats 3.9315238619
MESH:D001321 Autistic Disorder Valproic Acid 2.0018396377 20603192 19460635 18558336 19232924 18316065 15238991 18985861 18940202 17507914 17157402 17688650 16609825 18177632 18775368
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.081440618 11289319
MESH:D001714 Bipolar Disorder Valproic Acid 3.0920046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.1719483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.428888407
MESH:D001943 Breast Neoplasms Dietary Fats 2.1520435547
MESH:D001943 Breast Neoplasms Estradiol 2.1516675129 12948864 14630087 18497071 17018787 17289903 17261762 19861407
MESH:D002056 Burns Ethanol 4.6916374292
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.5116111702
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.8216050911 16097048 3786805 16124888 16011737 15700767 10355542 15721981 15673190 18705752 16192424 16227642
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 8.9316705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 8.933581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 8.9318788625
MESH:D006528 Carcinoma, Hepatocellular Estradiol 8.9316924424
MESH:D006528 Carcinoma, Hepatocellular Ethanol 8.9315763234 18788625 15289165
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.697296757
MESH:D006332 Cardiomegaly Ethanol 3.4519332462
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 11.257505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.2512371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 11.2518566989
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7220734317
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 13.5019486331 9022650
MESH:D002779 Cholestasis Cyclosporine 13.5019486331
MESH:D002779 Cholestasis pirinixic acid 13.5019176532
MESH:D002971 Cleft Lip Ethanol 3.6015513904
MESH:D002972 Cleft Palate Ethanol 3.1815513904
MESH:D019465 Craniofacial Abnormalities Ethanol 2.8811873399 15451040 19302082 11198716 15451039 15513904 10194807
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.888888407 17688650 16575769
MESH:D003456 Cryptorchidism vinclozolin 4.3814966744
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.0618551238
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 7.282524372 8156756 8970840 11906362 18759878 12868966 11298694 14531868
MESH:D017449 Dermatitis, Allergic Contact nickel sulfate 7.2816823706 11298694 16780908
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4418249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.522952479 3621924
MESH:D003928 Diabetic Nephropathies Estradiol 3.4419279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 12.1218551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 12.1218692083 7440962 18289764 8291058 6482804 9328219 11289319 9653073 1440618 18648102 16192314 9022650 6679447
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 12.127120509 16177239 6623471 10915739 3786805 16227642 7179309 7440962 15027814 2869522 10092053 21278145 6884620 9327722 11566570 17522070 4309450 19085960 3732212 15968718 19336974 15998439
MESH:D056486 Drug-Induced Liver Injury Ethanol 12.1211566570
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 12.121733752 19641884
MESH:D050171 Dyslipidemias Dietary Fats 3.4718367378
MESH:D004421 Dystonia Valproic Acid 4.081851702
MESH:D004487 Edema perfluorooctanoic acid 7.0817259670 12083418
MESH:D004487 Edema pirinixic acid 7.0812083418
MESH:D016889 Endometrial Neoplasms Estradiol 3.0018566989 11473722 19148513
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.1917275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 3.9816628512 3922381
MESH:D004827 Epilepsy Valproic Acid 2.9520417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.617562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.347750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.113659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.663581430
MESH:D004938 Esophageal Neoplasms Ethanol 4.6616704527
MESH:D005234 Fatty Liver Carbon Tetrachloride 31.1816045604 15959796 19224547 12795759 16239168 12631006 61145 17595544
MESH:D005234 Fatty Liver Cyclosporine 31.1819224547
MESH:D005234 Fatty Liver Dietary Fats 31.1817967931 19004024 19551842 18296743
MESH:D005234 Fatty Liver Ethanol 31.1819236843 18620774 16409862
MESH:D005234 Fatty Liver pirinixic acid 31.1820131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 31.1814986274 19224547
MESH:D005235 Fatty Liver, Alcoholic Ethanol 5.7317920746
MESH:D005310 Fetal Alcohol Syndrome Ethanol 5.3510194807 15513904 16946407 15451040
MESH:D005315 Fetal Diseases Valproic Acid 4.9516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.1718558336 8888407
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.086705139
MESH:D005355 Fibrosis Carbon Tetrachloride 15.0518705752
MESH:D005355 Fibrosis Cyclosporine 15.0512639820 12168785
MESH:D005355 Fibrosis Dietary Fats 15.0518296743
MESH:D005756 Gastritis Ethanol 4.7615046732
MESH:D030342 Genetic Diseases, Inborn vinclozolin 4.9816973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.3616417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.278708960
MESH:D005909 Glioblastoma biochanin A 4.4816598420
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.077505956
MESH:D006333 Heart Failure pirinixic acid 2.5520558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.4715720958
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 9.356705139
MESH:D006505 Hepatitis Carbon Tetrachloride 9.3519900420 19110552
MESH:D006529 Hepatomegaly perfluorooctanoic acid 8.843609246
MESH:D006529 Hepatomegaly pirinixic acid 8.8418467677 19772884 16221962 19176532
MESH:D006558 Herpes Genitalis Estradiol 5.0915709030
MESH:D019584 Hot Flashes Estradiol 3.8117088409
MESH:D006849 Hydrocephalus Valproic Acid 4.9217688650
MESH:D006930 Hyperalgesia Ethanol 8.3118783367
MESH:D006930 Hyperalgesia perfluorooctanoic acid 8.3112083418
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.5816899240
MESH:D006937 Hypercholesterolemia Dietary Fats 3.6221332399
MESH:D006943 Hyperglycemia pirinixic acid 3.2120558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.6521332399
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 3.9815034207
MESH:D006973 Hypertension Cyclosporine 2.1110903974
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.1315338365
MESH:D007248 Infertility, Male vinclozolin 3.0616467254
MESH:D007249 Inflammation Dietary Fats 5.4020412841
MESH:D007249 Inflammation perfluorooctanoic acid 5.4012083418
MESH:D007333 Insulin Resistance Dietary Fats 12.4011836018 18457598
MESH:D007333 Insulin Resistance Estradiol 12.4016393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 12.4016306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.088074119 9022650
MESH:D007569 Jaw Abnormalities Ethanol 4.4315513904
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5015604871
MESH:D007674 Kidney Diseases Cyclosporine 5.998314463 10903974 18776723
MESH:D007674 Kidney Diseases Estradiol 5.9915618244
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 17.9416705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 17.946582329
MESH:D007680 Kidney Neoplasms Cyclosporine 17.9412371664
MESH:D007680 Kidney Neoplasms Estradiol 17.9415610895
MESH:D007859 Learning Disorders Ethanol 4.2515451040
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1516294345 17596541
MESH:D007984 Leydig Cell Tumor perfluorooctanoic acid 13.118812269
MESH:D007984 Leydig Cell Tumor vinclozolin 13.1116417039
MESH:D017880 Limb Deformities, Congenital Ethanol 3.8317676605
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 11.1816943688 16221502 11408273 17157831 21278145 11903743 16239168 17174718 17334410
MESH:D008103 Liver Cirrhosis Dietary Fats 11.1818296743
MESH:D008103 Liver Cirrhosis Ethanol 11.1815289165
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.1518295389
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.219327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 4.9917481882 12958196 18472332 16116963 17714472 18420326 18251166 12445421 18210741 17640975 18376398 15123356 17869086 15876570 12741479 16011737 18054572 17766677 12445418 18418968 17805973 17976157 16015684 17525996 15818738 12667390 17761835 15959796 15931870 18429990 18472094 18317297 12632514 18339082 16638106 18156304 12586293 16027843 18277467 14716833 12649538 18263696 18006644 16192424 16136751 15996030 15730626 17565644 17922224 10355542 18412020 15052691 17708605 18187930 15925388 17721639 14748882 15362042 17557913 17631135 14620537 15650968 12546737 18279442 15338365 12632512 12898905 15893842 16248980 18395095 17698563 18205269 18395914 12609069 15673190 13678700 14724832 16033810 12666154 17900296 16097048 20821823 14716496 15057751 17823541 18166357 12389079 18705752 11481614 14512876 18481824 15370692 17944888
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 4.9914659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 4.9918166357
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 4.9915474484
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.0916246199 15720792 16964402 15830285 17285989
MESH:D008108 Liver Diseases, Alcoholic Ethanol 4.6917347304 17207112
MESH:D017093 Liver Failure Carbon Tetrachloride 4.2115123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.7216899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.5619294768
MESH:D008113 Liver Neoplasms perfluorooctanoic acid 7.5614757943 18709148
MESH:D008113 Liver Neoplasms pirinixic acid 7.5616377806 20007298 15890375
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 5.973712494 598648 1399818 6587162
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 5.9715583823 12014681
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.3217228818
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.5816891317 11807958 17203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.5519453300
MESH:D008569 Memory Disorders Ethanol 4.2215451040 18411066
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.8516801185
MESH:D008881 Migraine Disorders Valproic Acid 3.2118803445 18765137
MESH:D009135 Muscular Diseases pirinixic acid 3.5516239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.068888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.1717596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1519151258
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.3216810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.3216411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 3.9118551238
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.483581430
MESH:D009369 Neoplasms pirinixic acid 1.9617405874
MESH:D009389 Neovascularization, Pathologic Estradiol 3.7817289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5017954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3118481113 19348381
MESH:D009421 Nervous System Malformations Estradiol 3.6911399458 16427766
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.316679447
MESH:D009436 Neural Tube Defects Valproic Acid 7.3116359493 8888407
MESH:D052556 Niemann-Pick Disease, Type C perfluorooctanoic acid 4.999802331
MESH:D009765 Obesity Dietary Fats 4.4520132043 17217161 11836018 18674790 16723640 21332399 18457598 19632207 20518802
MESH:D009765 Obesity pirinixic acid 4.4520558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 8.9712819281 16049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 8.976482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.083988306
MESH:D010051 Ovarian Neoplasms Estradiol 2.2319401270
MESH:D010190 Pancreatic Neoplasms Ethanol 2.9812384795
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.527296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.536228378
MESH:D011230 Precancerous Conditions Cyclosporine 3.2512371664
MESH:D011297 Prenatal Exposure Delayed Effects perfluorooctanoic acid 16.7117132714
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 16.7120603192
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 16.7119015723 18042343 18220299
MESH:D011469 Prostatic Diseases vinclozolin 4.9818220299
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.9120887781
MESH:D011471 Prostatic Neoplasms biochanin A 3.7312111696
MESH:D011471 Prostatic Neoplasms Estradiol 3.7316740699
MESH:D011472 Prostatitis vinclozolin 4.9818629315
MESH:D019310 Pseudolymphoma Valproic Acid 4.6011422049 12752131
MESH:D011565 Psoriasis Cyclosporine 2.2416882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4019058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.393692021
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.2119155313
MESH:D012559 Schizophrenia Valproic Acid 2.0719110320 15737665
MESH:D012640 Seizures 2,4-dinitrotoluene 10.0118551238
MESH:D012640 Seizures Ethanol 10.019754883
MESH:D012640 Seizures Valproic Acid 10.011511512 17978042 14763951 15475178 3137016 11738929 11044598 16876388
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8019490988
MESH:D013226 Status Epilepticus Valproic Acid 4.6012833885
MESH:D013274 Stomach Neoplasms Ethanol 2.3018456281
MESH:D013276 Stomach Ulcer Ethanol 3.5611906479 17918041 17189318 16755016 9562338 9211565
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.289754883
MESH:D049290 Tay-Sachs Disease, AB Variant marker/mechanism
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 2.906582329 1399818 3712494 6587162 7505956
MESH:D013978 Tibial Fractures Estradiol 4.7519048282
MESH:D014178 Translocation, Genetic Valproic Acid 5.3017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.573119515
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.0416049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.048074119
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.688888407
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.3710091137
MESH:D014605 Uveitis Cyclosporine 4.051336536
MESH:D015430 Weight Gain Dietary Fats 3.7616723640
MESH:D014985 Xerophthalmia Cyclosporine 4.5017120751
Pathway ID Pathway Name
KEGG:04142 Lysosome
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB02261 - Platelet Activating Factor Antihypertensive Agents;Adrenergic beta-Antagonists
DB02325 - Isopropyl Alcohol Solvents
DB03017 - Lauric Acid
DB03633 - Lpc-Ether
DB04184 - Acetate Ion Indicators and Reagents
DB04660 - Glycerylphosphorylcholine
DB08231 - MYRISTIC ACID
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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