AutismKB 2.0

Annotation Detail for ACTN4


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Basic Information Top
Gene Symbol:ACTN4 ( ACTININ-4,DKFZp686K23158,FSGS,FSGS1 )
Gene Full Name: actinin, alpha 4
Band: 19q13.2
Quick LinksEntrez ID:81; OMIM: 604638; Uniprot ID:ACTN4_HUMAN; ENSEMBL ID: ENSG00000130402; HGNC ID: 166
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04670Leukocyte transendothelial migration
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05146Amoebiasis
hsa05322Systemic lupus erythematosus
hsa04530Tight junction
hsa04520Adherens junction
hsa04810Regulation of actin cytoskeleton
hsa04510Focal adhesion
Pathway IDPathway Name
Interactions of the immunoglobulin superfamily (IgSF) member proteins
Hemostasis
No data
Pathway IDPathway Name
P00034Integrin signalling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1727Pancreas disease
1940Ovarian disease
1944Breast cancer
2107Proteinuria
No data
No data
Desease Name
Glomerulosclerosis, focal segmental, 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of ACTN4 mRNAaffects expression 21346803
C029955 2-nitrotoluene 2-nitrotoluene results in decreased expression of ACTN4 mRNAdecreases expression 16460773
D000082 Acetaminophen Acetaminophen affects the expression of ACTN4 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ACTN4 mRNAaffects expression 16483693
C032036 bromobenzene bromobenzene results in decreased expression of ACTN4 mRNAdecreases expression 15056800
C099813 bromochloroacetic acid bromochloroacetic acid results in decreased expression of ACTN4 mRNAdecreases expression 16460773
D016572 Cyclosporine Cyclosporine results in decreased expression of ACTN4 mRNAdecreases expression 20106945
D004041 Dietary Fats Dietary Fats results in increased expression of ACTN4 mRNAincreases expression 18042831
D004317 Doxorubicin Doxorubicin affects the localization of ACTN4 proteinaffects localization 16636307
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ACTN4 mRNAaffects cotreatment|increases expression 17942748
D005038 Ethylnitrosourea Ethylnitrosourea results in increased expression of ACTN4 mRNAincreases expression 15954086
D005419 Flavonoids Flavonoids results in decreased expression of ACTN4 mRNAdecreases expression 18035473
C029424 hydrazine hydrazine results in increased expression of ACTN4 mRNAincreases expression 15282401
C041786 palm oil palm oil results in increased expression of ACTN4 mRNAincreases expression 18042831
D012643 Selenium Selenium results in increased expression of ACTN4 mRNAincreases expression 19244175
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ACTN4 mRNAaffects cotreatment|increases expression 17942748
D014810 Vitamin E Vitamin E results in increased expression of ACTN4 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.8411752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.5518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.9417505938
MESH:D000230 Adenocarcinoma Doxorubicin 4.3717418594
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3714692618
MESH:D000236 Adenoma Ethylnitrosourea 3.706695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.3716835633
MESH:D000419 Albuminuria Doxorubicin 4.5321441931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9311748828
MESH:D000799 Angioedema Acetaminophen 3.8410982225
MESH:D001161 Arteriosclerosis Dietary Fats 9.8615238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 9.8611256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6515885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.0212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.7915340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7515746008
MESH:D019046 Bone Marrow Neoplasms Doxorubicin 4.7014601052
MESH:D001927 Brain Diseases Ethylnitrosourea 4.8614991843
MESH:D001932 Brain Neoplasms Doxorubicin 9.0317150277
MESH:D001932 Brain Neoplasms Ethylnitrosourea 9.0316436596 15144691 16651633 16357521 18412241
MESH:D001943 Breast Neoplasms Dietary Fats 1.8920435547
MESH:D001943 Breast Neoplasms Doxorubicin 1.8918628466 15939500 11325840 15136595 18234424 19526202 17369602 15993339 18382427 16826403 16096432 15692762 17983394 16264153 15668708 15634643 16115903 17426702 15994142 16595493 16935488 15567936 18695136 16322301
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8920435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 3.9216050911
MESH:D002276 Carcinoid Tumor Doxorubicin 4.8116051944
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.7816835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.5516705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.553084413
MESH:D006528 Carcinoma, Hepatocellular Doxorubicin 4.5517876044 16234567 16023760 18059187
MESH:D002292 Carcinoma, Renal Cell Doxorubicin 3.1516201981 1485588
MESH:D002294 Carcinoma, Squamous Cell Doxorubicin 2.636189445
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3516120746 18850075 18670907
MESH:D009202 Cardiomyopathies Doxorubicin 3.5116109756 17329180 16651473 17519947 15811867 15476868 16269455 17007740 16952015 17131338 15792986 16364871 18627295 17308081 17928571 16612575 16731534 16242529 16278810 17974986 15505089 17382496 17351982 16455267 17924179
MESH:D002311 Cardiomyopathy, Dilated Doxorubicin 2.9416243910 17334414
MESH:D002386 Cataract Acetaminophen 2.5710977129
MESH:D002430 Cecal Neoplasms 2-nitrotoluene 5.6614688030
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 11.196135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.1912371664
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 11.1916003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 5.9817160924
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1416835633
MESH:D002779 Cholestasis Cyclosporine 7.7219486331
MESH:D002779 Cholestasis Ethinyl Estradiol 7.7217333356 16105132 17110522 17681005 15861022 11677210 16919318
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.0912621046 8697196 16354765 15340226 15668235
MESH:D003092 Colitis Selenium 3.7717936198
MESH:D015179 Colorectal Neoplasms Doxorubicin 2.1418259882 18802399
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.4720055451 15322242 10048152
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.4719769572
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.0018551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6617107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 15.2021346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 15.2016485898 17522070 14986274 10663392 19370779 12958197 16177239 17906064 17562736 12153990 16109766 11287661 16227642 12705907 11834606 14725611 19164858 12540782 19085960 18071297 12594235 16781746 16393943 19739265 16081117 19416960 15968718 11421492 10774834 11461765 2444490 14550746 19923254 10915739 19420014 11529661 12392966 11743745 11739529 18713872 15619225
MESH:D056486 Drug-Induced Liver Injury bromobenzene 15.2012628495 10092053
MESH:D056486 Drug-Induced Liver Injury Doxorubicin 15.2017416283
MESH:D056486 Drug-Induced Liver Injury Selenium 15.2015131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 15.2020420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1019426721
MESH:D004362 Drug Toxicity Doxorubicin 8.0618602426
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 8.0611462148
MESH:D050171 Dyslipidemias Dietary Fats 3.4418367378
MESH:C538011 Eales disease Vitamin E 4.709068938
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 5.9818357618
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.3612711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.9016714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.1712538720
MESH:D016889 Endometrial Neoplasms Doxorubicin 3.4417359293
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.009294722 10568697
MESH:D004719 Endomyocardial Fibrosis Doxorubicin 5.1618037988
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0011564622
MESH:D005234 Fatty Liver Cyclosporine 12.9619224547
MESH:D005234 Fatty Liver Dietary Fats 12.9617967931 19004024 19551842 18296743
MESH:D005234 Fatty Liver Ethinyl Estradiol 12.9615345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.4411858732
MESH:D018222 Fibromatosis, Aggressive Doxorubicin 4.5819069698
MESH:D005355 Fibrosis Cyclosporine 14.6512639820 12168785
MESH:D005355 Fibrosis Dietary Fats 14.6518296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 14.6520067830
MESH:D005756 Gastritis Acetaminophen 3.6816983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.218708960
MESH:D005909 Glioblastoma Doxorubicin 7.5017150277
MESH:D005909 Glioblastoma Ethylnitrosourea 7.5016436596
MESH:D005910 Glioma Ethylnitrosourea 3.4816357521 16651633 18412241
MESH:D005923 Glomerulosclerosis, Focal Segmental marker/mechanism
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.5910696789
MESH:D006258 Head and Neck Neoplasms Doxorubicin 3.5115692506
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.5311294989 10048152
MESH:D006330 Heart Defects, Congenital Vitamin E 6.5316080930
MESH:D006331 Heart Diseases Doxorubicin 3.4718006777 12587719 16244372 17888722 16495754 14766674 17875725 16879835 16244371 16330681 16707910 18674790 16144979
MESH:D006333 Heart Failure Doxorubicin 7.2017481944
MESH:D006333 Heart Failure Selenium 7.2017162251
MESH:D006394 Hemangiosarcoma 2-nitrotoluene 9.6013678655
MESH:D006394 Hemangiosarcoma Doxorubicin 9.6015692506
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.4115720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 2.8812621046 15340226 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.6916863852 16490937
MESH:D006689 Hodgkin Disease Doxorubicin 3.3915147373 18501091 17606976
MESH:D019584 Hot Flashes Vitamin E 3.9714716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.058697196 18606429 16354765 15340226 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.6816870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.5721332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.6021332399
MESH:D006973 Hypertension Cyclosporine 4.9210903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 4.9218670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.8016569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4412013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.4717937319
MESH:D007249 Inflammation Dietary Fats 8.2520412841
MESH:D007249 Inflammation Flavonoids 8.2517296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.2512878042 12200463
MESH:D007251 Influenza, Human Selenium 10.9616624496
MESH:D007251 Influenza, Human Vitamin E 10.9616624496
MESH:D007333 Insulin Resistance Dietary Fats 3.0918457598 11836018
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.4415604871
MESH:D007674 Kidney Diseases Acetaminophen 14.3415629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 14.3418776723 10903974 8314463
MESH:D007674 Kidney Diseases Doxorubicin 14.3415369732 15699352 16775033
MESH:D007674 Kidney Diseases Vitamin E 14.3412488133
MESH:D007676 Kidney Failure, Chronic Doxorubicin 9.9216707910
MESH:D007676 Kidney Failure, Chronic Selenium 9.9216518626
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 12.3916705839
MESH:D007680 Kidney Neoplasms Cyclosporine 12.3912371664
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 12.3917379185
MESH:D004915 Leukemia, Erythroblastic, Acute Doxorubicin 5.1616085563
MESH:D008103 Liver Cirrhosis Dietary Fats 2.8618296743
MESH:D008106 Liver Cirrhosis, Experimental Doxorubicin 3.5016595196 16439617
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5012878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.5016169303
MESH:D008107 Liver Diseases Acetaminophen 1.6216611625 12969438 11587558 19784758 12587719 19014921 16610002 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2217185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.347678174
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.3416984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 9.762876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Doxorubicin 9.7617085340 16842330
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 9.7612151625
MESH:D008171 Lung Diseases Vitamin E 3.1616863852
MESH:D008175 Lung Neoplasms Doxorubicin 4.886189445 17418594
MESH:D008175 Lung Neoplasms Ethylnitrosourea 4.8816271038 17703301 6695378 16019985
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.8811884234 19555203
MESH:D008175 Lung Neoplasms Vitamin E 4.8811062179
MESH:D008223 Lymphoma Doxorubicin 7.8716098063
MESH:D008223 Lymphoma Ethylnitrosourea 7.8715790496
MESH:D008228 Lymphoma, Non-Hodgkin Doxorubicin 3.7717654614
MESH:D016399 Lymphoma, T-Cell Doxorubicin 11.6515621674
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 11.6515375218
MESH:D008325 Mammary Neoplasms, Experimental Doxorubicin 10.0615458769
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 10.0610838139 18041768 10767621
MESH:D008325 Mammary Neoplasms, Experimental Selenium 10.0615318939
MESH:D008545 Melanoma Doxorubicin 2.2816827129
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5519513568
MESH:D008579 Meningioma Ethylnitrosourea 5.9817943659
MESH:D008654 Mesothelioma Doxorubicin 6.2617638057
MESH:D008654 Mesothelioma Selenium 6.2615107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.7916801185
MESH:D028361 Mitochondrial Diseases Doxorubicin 4.4815792986
MESH:D052016 Mucositis Doxorubicin 4.7817415656
MESH:D019042 Muscle Neoplasms 2-nitrotoluene 6.6813678655
MESH:D009203 Myocardial Infarction Doxorubicin 2.9419429709 15857846
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0012213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 3.857678174 18551238
MESH:D009362 Neoplasm Metastasis Doxorubicin 2.9418259882
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.3916707424
MESH:D009401 Nephrosis Doxorubicin 4.7516899518 16636307
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.4417954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 9.2319348381 18481113
MESH:D009404 Nephrotic Syndrome Doxorubicin 9.2315640375 16889571
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.2014600291
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.4116651423 17160924 16003739
MESH:D009447 Neuroblastoma Doxorubicin 3.2515555623
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8518514411
MESH:D009765 Obesity Dietary Fats 2.2816723640 19632207 11836018 18674790 18457598 17217161 20518802 21332399 20132043
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.4116049721
MESH:D009837 Oligodendroglioma Ethylnitrosourea 5.9817160924
MESH:D012516 Osteosarcoma Doxorubicin 4.0915930896
MESH:D010146 Pain Acetaminophen 2.3716870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6711578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.2512520081
MESH:D003557 Phyllodes Tumor Doxorubicin 5.1617983394
MESH:D010954 Plasmacytoma Selenium 4.8915087411
MESH:D010997 Pleural Neoplasms Doxorubicin 5.1617638057
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5418163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.2012371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.1811896295 11222880 11118676 11399792
MESH:D011471 Prostatic Neoplasms Doxorubicin 3.4115897917 16888761 16868541 18437689 15749863 16729912
MESH:D011471 Prostatic Neoplasms Vitamin E 3.4115084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.3016919318 15861022
MESH:D011565 Psoriasis Cyclosporine 2.2216882103
MESH:D051437 Renal Insufficiency Doxorubicin 4.2117922066
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8218990726
MESH:D012509 Sarcoma Doxorubicin 3.9717203757 16767912 15625365 15675481 18313854 17710206
MESH:D012512 Sarcoma, Ewing's Doxorubicin 4.2316326096 14601052
MESH:D012514 Sarcoma, Kaposi Doxorubicin 4.7817846226
MESH:D012640 Seizures 2,6-dinitrotoluene 2.5218551238
MESH:D012871 Skin Diseases Vitamin E 2.4418709164
MESH:D012878 Skin Neoplasms Doxorubicin 5.6515692506
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.6516192470
MESH:D012983 Soft Tissue Neoplasms Doxorubicin 4.5515625365 17203757 16767912
MESH:D013088 Spermatocele Ethinyl Estradiol 3.9416709447
MESH:D020521 Stroke Vitamin E 3.5016517955
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.1315669648
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.1515790496
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.9012697716
MESH:D013964 Thyroid Neoplasms Doxorubicin 3.3516010429 17909728
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.1616049721
MESH:D001749 Urinary Bladder Neoplasms Doxorubicin 5.1617653716
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.3110091137
MESH:D014581 Urticaria Acetaminophen 2.9610982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.2814692618
MESH:D014605 Uveitis Cyclosporine 3.981336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.5912125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5214671159 15869587
MESH:D018487 Ventricular Dysfunction, Left Doxorubicin 4.2117638931 17334414 16364871 17678736
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.2515886252
MESH:D015430 Weight Gain Dietary Fats 3.7216723640
MESH:D014985 Xerophthalmia Cyclosporine 4.4417120751
Pathway ID Pathway Name
KEGG:04520 Adherens junction
KEGG:05146 Amoebiasis
KEGG:05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
KEGG:04510 Focal adhesion
REACT:604 Hemostasis
REACT:23853 Interactions of the immunoglobulin superfamily (IgSF) member proteins
KEGG:04670 Leukocyte transendothelial migration
KEGG:04810 Regulation of actin cytoskeleton
KEGG:05322 Systemic lupus erythematosus
KEGG:04530 Tight junction
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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


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