AutismKB 2.0

Annotation Detail for SCN1A


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Basic Information Top
Gene Symbol:SCN1A ( FEB3,FEB3A,GEFSP2,HBSCI,NAC1,Nav1.1,SCN1,SMEI )
Gene Full Name: sodium channel, voltage-gated, type I, alpha subunit
Band: 2q24.3
Quick LinksEntrez ID:6323; OMIM: 182389; Uniprot ID:SCN1A_HUMAN; ENSEMBL ID: ENSG00000144285; HGNC ID: 10585
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1777Intractable epilepsy
1791Neuropathy
1870Drug abuse
1966Myoclonic epilepsy, Juvenile
1909Migraine
1910Infantile spasms
1953Nervous system disease
1977Rheumatism
1982Myopathy
2035Brain disease
2124Autistic disorder
2223Central nervous system disease
Desease Name
generalized epilepsy
epilepsy
NEUROLOGICAL
No data
Desease Name
Epilepsy, severe myoclonic, of infancy
Antiepileptic drugs, response to
Migraine, familial hemiplegic, 3
Epilepsy, generalized, with febrile seizures plus, type 2
Epilepsy, intractable childhood, with generalized tonic-clonic seizures
Febrile convulsions, familial, 3A
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of SCN1A proteinaffects expression 20106945
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of SCN1A mRNAdecreases expression 20106945
D002220 Carbamazepine SCN1A gene polymorphism results in decreased susceptibility to Carbamazepinedecreases response to substance 18489610
D002220 Carbamazepine SCN1A protein affects the susceptibility to Carbamazepineaffects response to substance 15805193
18489610
D004958 Estradiol Estradiol results in decreased expression of SCN1A mRNAdecreases expression 20106945
D007657 Ketone Bodies Ketone Bodies results in increased expression of SCN1A mRNAincreases expression 16807920
D015058 1-Naphthylisothiocyanate 1-Naphthylisothiocyanate results in increased expression of SCN1A mRNAincreases expression 12832660
D010634 Phenobarbital Phenobarbital results in increased expression of SCN1A mRNAincreases expression 12832660
D010672 Phenytoin SCN1A gene polymorphism affects the susceptibility to Phenytoinaffects response to substance 17001291
D010672 Phenytoin SCN1A protein affects the susceptibility to Phenytoinaffects response to substance 15805193
C025299 polyphenols polyphenols results in decreased expression of SCN1A mRNAdecreases expression 16293270
D013619 Tacrine Tacrine results in increased expression of SCN1A mRNAincreases expression 12832660
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SCN1A mRNAdecreases expression 20106945
D015032 Zinc Zinc results in increased expression of SCN1A mRNAincreases expression 17074742
D019287 Zinc Sulfate Zinc Sulfate results in increased expression of SCN1A mRNAincreases expression 17074742
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Carbamazepine 21.478986270
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 21.476195326
MESH:D000014 Abnormalities, Drug-Induced Phenytoin 21.476195326 3425630 10563481 8986270 9677735 9118846
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 21.4715322242 11752688 14514962
MESH:D000138 Acidosis Zinc Sulfate 5.027265320
MESH:D000169 Acrodermatitis Zinc 5.5216889938 17202136 17190629
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3420464547 20127859
MESH:D000230 Adenocarcinoma Estradiol 4.3411473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.706695378
MESH:D018248 Adenoma, Liver Cell Phenobarbital 10.4817620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.4816835633
MESH:D000544 Alzheimer Disease Tacrine 5.0612725862
MESH:D000544 Alzheimer Disease Zinc 5.0616325427 16410023 17119284 16580781
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D000755 Anemia, Sickle Cell Zinc 5.0016916123
MESH:D000860 Anoxia Zinc Sulfate 5.137265320
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1819183758
MESH:D001249 Asthma Zinc 2.9717085522
MESH:D050197 Atherosclerosis Phenytoin 3.9715136057
MESH:D001714 Bipolar Disorder Carbamazepine 4.1717594078 20046352
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8115746008
MESH:D001930 Brain Injuries Zinc 4.7917109824
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.7920146248 17474063
MESH:D001943 Breast Neoplasms Estradiol 1.7912948864 17018787 17289903 14630087 16675129 18497071 17261762 19861407
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.7920435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.5816111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8616835633
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 4.6721507988 12619106 12907637
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.6716924424
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 4.6717173139 1701930 20935162 20007298 6705139
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.8620419170
MESH:D002294 Carcinoma, Squamous Cell Zinc 4.8616543248
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4118670907 18850075 16120746
MESH:D002318 Cardiovascular Diseases Zinc 3.7116936243
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.8218566989
MESH:D002493 Central Nervous System Diseases Phenobarbital 12.024080065
MESH:D002493 Central Nervous System Diseases Phenytoin 12.024080065
MESH:D002659 Child Development Disorders, Pervasive marker/mechanism 21572417
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2316835633
MESH:D002761 Cholangitis 1-Naphthylisothiocyanate 6.3412912871
MESH:D002779 Cholestasis 1-Naphthylisothiocyanate 4.3912927374 16629650 18590720 7624871 19486331 15913567 15500046 18164287
MESH:D002780 Cholestasis, Intrahepatic 1-Naphthylisothiocyanate 5.9910220858 19407337
OMIM:601042 CHOREOATHETOSIS/SPASTICITY, EPISODIC Phenytoin 5.9811748493
MESH:D002971 Cleft Lip Phenytoin 4.192227380
MESH:D002972 Cleft Palate Phenytoin 6.266856622 3877104 10789828 2227380 6862529 1687470
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.2615340226 16354765 15668235 8697196 12621046
MESH:D003103 Coloboma Phenytoin 5.239212184
MESH:D003110 Colonic Neoplasms polyphenols 2.6816293270
MESH:D000013 Congenital Abnormalities Phenytoin 9.6310627286
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 9.6314669216 17141729
MESH:D019465 Craniofacial Abnormalities Carbamazepine 5.609014606
MESH:D019465 Craniofacial Abnormalities Phenytoin 5.608986270 9212184 19952982
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 5.6020055451 15322242 10048152
MESH:D019465 Craniofacial Abnormalities Zinc 5.6019302082
MESH:D003920 Diabetes Mellitus Zinc 4.2816479319
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.4819279558
OMIM:607208 DRAVET SYNDROME marker/mechanism 19099883 12907273
OMIM:607208 DRAVET SYNDROME Carbamazepine 12.7611748493
OMIM:607208 DRAVET SYNDROME Phenytoin 12.7611748493
MESH:D003875 Drug Eruptions Phenytoin 5.6015024534
MESH:D004342 Drug Hypersensitivity Carbamazepine 4.4516538176 16538175 20216337 15057820
MESH:D056486 Drug-Induced Liver Injury 1-Naphthylisothiocyanate 9.3117522070 20133375 7624871 18289764
MESH:D056486 Drug-Induced Liver Injury Carbamazepine 9.3117465707
MESH:D056486 Drug-Induced Liver Injury polyphenols 9.3119370779
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.3120420201
MESH:D004362 Drug Toxicity Carbamazepine 8.6020216337
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 8.6011462148
MESH:D004421 Dystonia Phenobarbital 4.091851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4611000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0418230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Carbamazepine 10.2517654737
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Phenytoin 10.2517654737
MESH:D016889 Endometrial Neoplasms Estradiol 3.0311473722 18566989 19148513
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.109294722 10568697
MESH:D004816 Epidermal Necrolysis, Toxic Carbamazepine 12.0516415921 20485159 18855540 16538176 19915237
MESH:D004816 Epidermal Necrolysis, Toxic Phenytoin 12.0520235791
MESH:D004820 Epidermolysis Bullosa Phenytoin 6.371399206 6251365
MESH:D004831 Epilepsies, Myoclonic Carbamazepine 11.5317275665
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 11.533659116
MESH:D004828 Epilepsies, Partial Carbamazepine 17.9315008574 16628512 17116037
MESH:D004828 Epilepsies, Partial Phenobarbital 17.9311558140 3922381
MESH:D004828 Epilepsies, Partial Phenytoin 17.9311558140 17116037
MESH:D004827 Epilepsy marker/mechanism 15805193 19694741
MESH:D004827 Epilepsy Carbamazepine 11.5318234410 20417680 821787 19439326 7988514 19700373 19620853 9014606 17178248 17465707
MESH:D004827 Epilepsy Phenobarbital 11.5320417680
MESH:D004827 Epilepsy Phenytoin 11.5320417680 821787 11434505
MESH:D004832 Epilepsy, Absence Phenobarbital 3.616401628
MESH:D017029 Epilepsy, Complex Partial Carbamazepine 20.207750514
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 20.207750514
MESH:D017029 Epilepsy, Complex Partial Phenytoin 20.207750514
MESH:D004830 Epilepsy, Tonic-Clonic Carbamazepine 18.7415276670 3659116
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 18.743659116
MESH:D004830 Epilepsy, Tonic-Clonic Phenytoin 18.743659116
MESH:D004916 Erythromelalgia Carbamazepine 5.8419549232
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.7016530937
MESH:D004938 Esophageal Neoplasms Zinc 4.7016543248
MESH:D005076 Exanthema Carbamazepine 5.5820485159
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005313 Fetal Death Phenytoin 11.0910627286
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 11.0911858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.0520067830
MESH:D005756 Gastritis Zinc 4.9317241300
OMIM:604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 marker/mechanism
OMIM:604403 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 marker/mechanism
MESH:D005885 Gingival Hyperplasia Phenytoin 5.789029455
MESH:D019214 Gingival Overgrowth Phenytoin 6.3716390469 14659971
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006130 Growth Disorders Zinc 4.0117217573
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.5820471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.5811294989 10048152
MESH:D006333 Heart Failure Zinc 3.6617162251
MESH:D006335 Heart Injuries Zinc 5.9017074742
MESH:D016481 Helicobacter Infections Zinc 4.6217241300
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006505 Hepatitis 1-Naphthylisothiocyanate 4.7918590720
MESH:D006527 Hepatolenticular Degeneration Zinc 11.6717276780
MESH:D006527 Hepatolenticular Degeneration Zinc Sulfate 11.6717063115
MESH:D006529 Hepatomegaly Phenobarbital 8.7916109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.7915340226 12621046 16120746
MESH:D006558 Herpes Genitalis Estradiol 5.1715709030
MESH:D019584 Hot Flashes Estradiol 3.8917088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1815340226 16959395 8697196 18606429 16354765
MESH:D020138 Hyperhomocysteinemia Carbamazepine 10.1510459572
MESH:D020138 Hyperhomocysteinemia Phenytoin 10.1510459572
MESH:D006965 Hyperplasia Carbamazepine 5.3118773962
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9318850075 18670907
MESH:D007022 Hypotension Zinc Sulfate 4.567265320
MESH:D007249 Inflammation polyphenols 5.2816366677
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2812878042 12200463
MESH:D007333 Insulin Resistance Estradiol 3.0216627594 16393666
MESH:D007511 Ischemia Zinc 4.7316584753
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007674 Kidney Diseases Estradiol 6.4515618244
MESH:D007674 Kidney Diseases Zinc 6.4516960431
MESH:D007676 Kidney Failure, Chronic Zinc 4.5016518626
MESH:D007680 Kidney Neoplasms Estradiol 3.0515610895
MESH:D016773 Leishmaniasis, Cutaneous Zinc Sulfate 4.3315237267
MESH:D008103 Liver Cirrhosis Phenobarbital 2.9421047994
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.2814659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2812878042
MESH:D008107 Liver Diseases 1-Naphthylisothiocyanate 9.7117184895
MESH:D008107 Liver Diseases Phenobarbital 9.7119363144
MESH:D008107 Liver Diseases Phenytoin 9.7114986274
MESH:D008107 Liver Diseases polyphenols 9.7116698588
MESH:D008113 Liver Neoplasms Aflatoxin B1 10.939163691 15890375 18177683 2125692
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 10.9321137059 20195826
MESH:D008113 Liver Neoplasms Phenobarbital 10.9319812893 19073162 19482888 21047994 15975961 8742319
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.9316984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 10.118603461
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 10.116150874 1399818 18308698 17172636 2563599
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.1112151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 3.4114755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.4120869020 18520028 6695378 20064080 20464547 17053015 18569708 20135361 18816296
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4119555203 11884234
MESH:D008180 Lupus Erythematosus, Systemic Carbamazepine 3.5916628512
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.3911807958 17203775 11408345 16891317
MESH:D008325 Mammary Neoplasms, Experimental Zinc 6.3912773700
MESH:D020149 Manganese Poisoning Estradiol 4.6219453300
MESH:D008607 Mental Retardation Carbamazepine 6.619014606
MESH:D008607 Mental Retardation Phenytoin 6.619212184
OMIM:609634 MIGRAINE, FAMILIAL HEMIPLEGIC, 3 marker/mechanism
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2516381670
MESH:D009069 Movement Disorders marker/mechanism 12907273
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.3416810080
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 12.8917484760
MESH:D020191 Myoclonic Epilepsies, Progressive Phenytoin 12.8917484760
MESH:D009224 Myotonia Congenita Carbamazepine 12.8820399394
MESH:D009224 Myotonia Congenita Phenytoin 12.881896199
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2011141357
MESH:D009389 Neovascularization, Pathologic Estradiol 3.8517289903
MESH:D009421 Nervous System Malformations Carbamazepine 17.0616990009
MESH:D009421 Nervous System Malformations Estradiol 17.0611399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 17.0614600291
MESH:D009436 Neural Tube Defects Phenytoin 4.189118846
MESH:D010018 Osteomalacia Carbamazepine 21.0517016548
MESH:D010018 Osteomalacia Phenobarbital 21.0517016548
MESH:D010018 Osteomalacia Phenytoin 21.0517016548
MESH:D010051 Ovarian Neoplasms Estradiol 2.2419401270
MESH:D010146 Pain Carbamazepine 7.8115215642
MESH:D010146 Pain Phenytoin 7.8115215642
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5216965848
MESH:D010267 Parapsoriasis Carbamazepine 5.8016538176
OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER Carbamazepine 6.0417679678 17145499
MESH:D010382 Peliosis Hepatis 1-Naphthylisothiocyanate 14.2420133375
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 14.2412520081
MESH:D017689 Polydactyly Phenytoin 5.119212184
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.692563599
MESH:D011225 Pre-Eclampsia Zinc 4.2417114810
MESH:D011248 Pregnancy Complications Carbamazepine 5.269014606
MESH:D011297 Prenatal Exposure Delayed Effects Carbamazepine 10.259014606
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.2511118676 11222880 11896295 11399792
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.9720887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.5817292933
MESH:D011471 Prostatic Neoplasms Estradiol 2.5816740699
MESH:D011471 Prostatic Neoplasms Zinc 2.5816606632 16700911 16517595 12429649
MESH:D019310 Pseudolymphoma Carbamazepine 22.1312752131 9591791
MESH:D019310 Pseudolymphoma Phenobarbital 22.1312752131
MESH:D019310 Pseudolymphoma Phenytoin 22.1312752131 8603615 1419762
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012162 Retinal Degeneration Zinc 4.1916584753
MESH:D012640 Seizures Carbamazepine 10.4716180713 16876388 9046859 15946322 16938433 19414003 9844417
MESH:D012640 Seizures Phenobarbital 10.473137016 11442880 4039156 16876388
MESH:D012640 Seizures Phenytoin 10.4719919933 15946322 16876388 9844417 3691417 3137016 11044598 10029267
MESH:D003294 Seizures, Febrile Phenobarbital 4.946407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.5919755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.5916192470
MESH:D012893 Sleep Disorders Carbamazepine 5.2419414003
MESH:D013262 Stevens-Johnson Syndrome Carbamazepine 11.9219915237 15057820 16538176 20485159 19694795 18855540 16415921
MESH:D013262 Stevens-Johnson Syndrome Phenytoin 11.9220235791
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.3917997062
MESH:D013921 Thrombocytopenia 1-Naphthylisothiocyanate 4.8320133375
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.111399818
MESH:D013978 Tibial Fractures Estradiol 4.8219048282
MESH:D014062 Tongue Neoplasms Zinc 4.4716543248
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2017053015
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
Pathway ID Pathway Name
REACT:18266 Axon guidance
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA301
    • No data
    Releated disease ID Related disease Name
    PA444065Epilepsy
    PA444071Epilepsy, Temporal Lobe
    Releated drug ID Related drug Name
    PA143485705antiepileptics
    PA450164lamotrigine
    PA450947phenytoin
    PA448785carbamazepine
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00252 antagonist Dilantin W Phenobarbital 30mg Cap Anticonvulsants
    DB00273 antagonist Topiramate Anticonvulsants;Anti-Obesity Agents;Neuroprotective Agents
    DB00909 antagonist Zonisamide Antioxidants;Anticonvulsants
    DB01121 antagonist Phenacemide Anticonvulsants
    DB01438 antagonist Phenazopyridine Anesthetics, Local
    DB01595 other/unknown Nitrazepam Anti-anxiety Agents;Hypnotics and Sedatives;Anticonvulsants;GABA Modulators
    DB04930 blocker Permethrin Enzyme Inhibitors;Insecticides
    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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