AutismKB 2.0

Annotation Detail for EEF2K


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Basic Information Top
Gene Symbol:EEF2K ( HSU93850,MGC45041,eEF-2K )
Gene Full Name: eukaryotic elongation factor-2 kinase
Band: 16p12.2
Quick LinksEntrez ID:29904; OMIM: 606968; Uniprot ID:EF2K_HUMAN; ENSEMBL ID: ENSG00000103319; HGNC ID: 24615
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Signaling by Insulin receptor
Pathway IDPathway Name
200080mTOR signaling pathway
200143Signaling mediated by p38-gamma and p38-delta
Pathway IDPathway Name
P00046Oxidative stress response
Pathway IDPathway Name
500993S6K1 signalling
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1740Alzheimer's disease
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of EEF2K mRNAincreases expression 19933214
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of EEF2K mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of EEF2K mRNAaffects expression 21346803
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of EEF2K mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of EEF2K mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of EEF2K mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of EEF2K mRNAdecreases expression 20064835
D003345 Corticosterone Corticosterone results in increased expression of EEF2K mRNAincreases expression 15755911
D016572 Cyclosporine Cyclosporine results in decreased expression of EEF2K mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of EEF2K mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of EEF2K mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EEF2K mRNAaffects cotreatment|increases expression 17942748
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of EEF2K mRNAaffects expression 17351261
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of EEF2K mRNAincreases expression 17557909
D005419 Flavonoids Flavonoids results in increased expression of EEF2K mRNAincreases expression 18035473
D009151 Mustard Gas Mustard Gas results in decreased expression of EEF2K mRNAdecreases expression 18955075
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in decreased expression of EEF2K mRNAdecreases expression 17616710
C058305 phenethyl isothiocyanate phenethyl isothiocyanate results in decreased expression of EEF2K mRNAdecreases expression 17616710
D013629 Tamoxifen Tamoxifen affects the expression of EEF2K mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EEF2K mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of EEF2K mRNAincreases expression 19933214
D015032 Zinc Zinc results in increased expression of EEF2K mRNAincreases expression 17074742
D019287 Zinc Sulfate Zinc Sulfate results in increased expression of EEF2K mRNAincreases expression 17074742
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.5214745880
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 8.367525203
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.3614514962 11752688 15322242
MESH:D000138 Acidosis Ammonium Chloride 10.5018287403
MESH:D000138 Acidosis Zinc Sulfate 10.507265320
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.9117505938
MESH:D000169 Acrodermatitis Zinc 5.3716889938 17202136 17190629
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.1420127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.1414692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.636695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.3416835633
MESH:D000544 Alzheimer Disease Zinc 2.7516410023 16325427 17119284 16580781
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9111748828
MESH:D000755 Anemia, Sickle Cell Zinc 4.8616916123
MESH:D000799 Angioedema Acetaminophen 3.8110982225
MESH:D000860 Anoxia Zinc Sulfate 4.987265320
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.0319183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.4211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6415885639
MESH:D001249 Asthma Mustard Gas 5.1610378619
MESH:D001249 Asthma Zinc 5.1617085522
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001768 Blister Mustard Gas 5.1219167455
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.0012125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.7615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7315746008
MESH:D001930 Brain Injuries Zinc 4.6517109824
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8020146248 17474063
MESH:D001943 Breast Neoplasms Tamoxifen 1.8019059307 18351453 19142967 19189210 18997820 17893378 18629630 11161223 16202921 18815881 17242785 18855134 18821012 19155303 16273361 19115204 20859285 19221464 19289846 19011961 21152245 19084267 20065188 20135344 15565566 19189212 21138602 17261762 19288272 19103187 19244106 20390343 19066611 19487384 19410462 20544844 16818667 18984771 17049068 16873071 17440819 20005174 15668708 18425577 19200415
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8020435547
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.1215286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 4.9517687719 10378619
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.7616835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.4719066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.4916705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.4916705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.493084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.4916924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.7520419170
MESH:D002294 Carcinoma, Squamous Cell Zinc 4.7516543248
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.5717572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3418670907 18850075 16120746
MESH:D002318 Cardiovascular Diseases Zinc 3.6316936243
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 7.3414694615
MESH:D002386 Cataract Acetaminophen 7.3410977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.476135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.4712371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D002779 Cholestasis Cyclosporine 7.6619486331
MESH:D002779 Cholestasis Ethinyl Estradiol 7.6616105132 17110522 16919318 11677210 15861022 17333356 17681005
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.0815340226 16354765 8697196 12621046 15668235
MESH:D003093 Colitis, Ulcerative phenethyl isothiocyanate 3.6320423518
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 9.0615095906
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 9.0617141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.6615322242 20055451 10048152
MESH:D019465 Craniofacial Abnormalities Zinc 2.6619302082
MESH:D003490 Cyanosis 2,4-dinitrotoluene 10.7618551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 10.7618551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.3219031437
MESH:D003920 Diabetes Mellitus Zinc 4.1616479319
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6617107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.4419279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 11.8818551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 11.8818551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 11.8821346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 11.8817562736 14986274 14550746 16227642 19370779 17906064 11529661 11834606 12153990 19085960 16393943 15968718 19420014 12958197 11739529 16177239 19164858 16081117 18071297 10915739 18713872 14725611 12540782 16781746 11743745 16109766 16485898 11287661 12705907 19739265 12392966 12594235 10774834 2444490 10663392 19923254 19416960 15619225 11461765 11421492 17522070
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 11.8820420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7311462148
MESH:D004487 Edema Mustard Gas 6.719260866 11428647 11428631 11402378
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.7112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.8716714409 18230668 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 8.8112538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 8.8119031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.0220544844 16202921 17893378 19155303
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.9810568697 9294722
MESH:D004890 Erythema Mustard Gas 5.129357497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.3116530937
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 7.3115623463 16510608 15547721 15878914 16805852 15264214 15150132 16704527 15547733
MESH:D004938 Esophageal Neoplasms Zinc 7.3116543248
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.9811564622
MESH:D005234 Fatty Liver Cyclosporine 12.8219224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 12.8215345470
MESH:D005234 Fatty Liver Tamoxifen 12.8214986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.2116709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.4211858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.4914745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.1519069698
MESH:D005355 Fibrosis Cyclosporine 8.3512168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.3520067830
MESH:D005756 Gastritis Acetaminophen 11.0716983495
MESH:D005756 Gastritis Zinc 11.0717241300
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.188708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.5710696789
MESH:D006130 Growth Disorders Zinc 3.9317217573
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.3720471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.3710048152 11294989
MESH:D006333 Heart Failure Zinc 3.5817162251
MESH:D006335 Heart Injuries Zinc 5.7417074742
MESH:D016481 Helicobacter Infections Zinc 4.4917241300
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.3915720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2911000095
MESH:D006527 Hepatolenticular Degeneration Zinc 11.1917276780
MESH:D006527 Hepatolenticular Degeneration Zinc Sulfate 11.1917063115
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 2.8516120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.0215340226 18606429 8697196 16354765 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.6616870215
MESH:D006973 Hypertension Cyclosporine 4.8910903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 4.8918670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.7716945680 16569931
MESH:D007022 Hypotension Zinc Sulfate 4.437265320
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.4617937319
MESH:D007249 Inflammation Flavonoids 11.7917296493
MESH:D007249 Inflammation Mustard Gas 11.7911428631 17524151 9357497 8975870 11428647 9260866 16001271 11428620 11402378
MESH:D007249 Inflammation Tamoxifen 11.7919457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 11.7912878042 12200463
MESH:D007511 Ischemia Zinc 4.5916584753
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.2916580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.4115604871
MESH:D007674 Kidney Diseases Acetaminophen 9.9312587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 9.938314463 18776723 10903974
MESH:D007674 Kidney Diseases Zinc 9.9316960431
MESH:D007676 Kidney Failure, Chronic Zinc 4.3816518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 17.4416705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 17.4416705839
MESH:D007680 Kidney Neoplasms Cyclosporine 17.4412371664
MESH:D007680 Kidney Neoplasms Tamoxifen 17.4418625569
MESH:D016773 Leishmaniasis, Cutaneous Zinc Sulfate 4.2215237267
MESH:D008064 Lipidoses Tamoxifen 3.1217567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.2718564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2712878042
MESH:D008107 Liver Diseases Acetaminophen 1.6211587558 16611625 12587719 19784758 19014921 12969438 16610002 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2016871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 10.547678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 10.5420195826 21137059
MESH:D008113 Liver Neoplasms Tamoxifen 10.5416684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.5416984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 5.642876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.6412151625
MESH:D008171 Lung Diseases Mustard Gas 3.4218702808 18161513
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 4.8020869020 20464547 18816296 18520028 20135361 17053015 20064080 18569708 6695378
MESH:D008175 Lung Neoplasms Mustard Gas 4.808781369 3148597
MESH:D008175 Lung Neoplasms Tamoxifen 4.8018625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.8011884234 19555203
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.7219428831
MESH:D008325 Mammary Neoplasms, Experimental Corticosterone 10.0112807724
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 10.0111731420 19196722 14580682 19196723 16827153
MESH:D008325 Mammary Neoplasms, Experimental Zinc 10.0112773700
MESH:D020149 Manganese Poisoning Tamoxifen 4.5219453300
MESH:D008545 Melanoma Tamoxifen 1.8719393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.1515990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5319513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.7616801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.1516381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.9812213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 10.2318551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 10.237678174 18551238
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5319393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5019410462
MESH:D009369 Neoplasms Benzo(a)pyrene 2.1511141357
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 3.9719189210 19196722 19200415
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.4117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2419348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.1714600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8318514411
MESH:D009503 Neutropenia Mustard Gas 3.937688884 16761898
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 14.9316049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 14.9316049721
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 14.9314694615
MESH:D010146 Pain Acetaminophen 2.3516870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.2212520081
MESH:D011041 Poisoning Mustard Gas 3.7615727166
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5218163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.1812371664
MESH:D011225 Pre-Eclampsia Zinc 4.1417114810
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.1611222880 11896295 11399792 11118676
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.6217292933
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.6215067354
MESH:D011471 Prostatic Neoplasms Zinc 2.6212429649 16606632 16517595 16700911
MESH:D011537 Pruritus Ethinyl Estradiol 9.4115861022 16919318
MESH:D011537 Pruritus Mustard Gas 9.4118058305
MESH:D011565 Psoriasis Cyclosporine 2.2116882103
MESH:D011658 Pulmonary Fibrosis Mustard Gas 2.9117894541 17266442 17720292 10334151 17620002
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8018990726
MESH:D012162 Retinal Degeneration Zinc 4.0916584753
MESH:D012640 Seizures 2,4-dinitrotoluene 5.7718551238
MESH:D012640 Seizures 2,6-dinitrotoluene 5.7718551238
MESH:D012871 Skin Diseases Mustard Gas 2.7012880345 15451306 16961503
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.4010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.4016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 11.4716709447
MESH:D013088 Spermatocele Tamoxifen 11.4716709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.0019457130
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.5320155912 2093021
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.5317575124 12958204
MESH:D013733 Testicular Diseases phenethyl isothiocyanate 4.9115864552
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.5811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.1115669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.8712697716
MESH:D014062 Tongue Neoplasms Zinc 4.3616543248
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 11.7716049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 11.7716049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 11.7717053015
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 11.7716712894 17572228 8653321
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 11.8710091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 11.8710091137
MESH:D014581 Urticaria Acetaminophen 2.9410982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.2614692618
MESH:D014605 Uveitis Cyclosporine 3.961336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.5712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5014671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.2215886252
MESH:D014985 Xerophthalmia Cyclosporine 4.4117120751
Pathway ID Pathway Name
REACT:498 Signaling by Insulin receptor
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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