AutismKB 2.0

Annotation Detail for HLA-DRB1


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Basic Information Top
Gene Symbol:HLA-DRB1 ( DRB1,DRw10,FLJ75017,FLJ76359,HLA-DR1B,HLA-DRB,HLA-DRB1*,SS1 )
Gene Full Name: major histocompatibility complex, class II, DR beta 1
Band: 6p21.32
Quick LinksEntrez ID:3123; OMIM: 142857; Uniprot ID:2B1F_HUMAN; ENSEMBL ID: ENSG00000196126; HGNC ID: 4948
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04672Intestinal immune network for IgA production
hsa04640Hematopoietic cell lineage
hsa05332Graft-versus-host disease
hsa04145Phagosome
hsa05310Asthma
hsa05416Viral myocarditis
hsa05140Leishmaniasis
hsa05145Toxoplasmosis
hsa05322Systemic lupus erythematosus
hsa05320Autoimmune thyroid disease
hsa05150Staphylococcus aureus infection
hsa05330Allograft rejection
hsa04612Antigen processing and presentation
hsa04514Cell adhesion molecules (CAMs)
hsa04940Type I diabetes mellitus
Pathway IDPathway Name
Signaling in Immune system
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00079Asthma
Circulatory system diseases
H00082Graves' disease
H00080Systemic lupus erythematosus
H00081Hashimoto's thyroiditis
Metabolic diseases
Immune system diseases
Diabetes
Cardiac diseases
H00408Type I diabetes mellitus
H00294Dilated cardiomyopathy (DCM)
Allergies and autoimmune diseases
No data
Desease Name
blood group incompatibility
HEMATOLOGICAL
increased prevalence and level of insulin autoantibodies
rheumatoid arthritis
Sjogren's syndrome
periodontitis
vitiligo
giant cell arteritis
hepatitis, autoimmune
antineutrophil cytoplasmic antibody
viral clearance
sickle cell anemia
coronary artery ectasia
delayed sleep phase syndrome.
hepatitis type 2, autoimmune
myasthenia gravis
hypothyroidism, goitrous juvenile autoimmune
tuberculosis
CARDIOVASCULAR
alpha 1-Antitrypsin Deficiency
Pre-Eclampsia
thyroid carcinoma
diabetes, type 1
Diabetes Mellitus
Multiple Myeloma
pollen allergy
endometriosis
lymphoma
rhinitis
Arthritis (juvenile idiopathic)
cardiomyopathy
Vogt-Koyanagi-Harada's disease
hypertension, pulmonary arterial
Azoospermia
pancreatitis, autoimmune
immune response to hepatitis B vaccine
recurrent oral ulcers
human papillomavirus infection
autologous mixed lymphocyte reaction
Alzheimer's disease
Celiac Disease
psoriatic arthritis
CANCER
thyroid disease, autoimmune
epilepsy
PSYCH
type 1 diabetes
autoimmune thyroid disease
liver disease
Hepatitis B, Chronic
ulcerative colitis
cirrhosis, biliary primary
PHARMACOGENOMIC
Asthma
nephropathy in other diseases
Takayasu Arteritis
Mite-sensitive asthma
thryoiditis, chronic lymphocytic
breast cancer
hypertension
multiple sclerosis
Urticaria
allergy
sclerosis, systemic
posttreatment Th2 immune response to S. mansoni Ags
alveolar echinococcosis
systemic lupus erythematosus
aortoarteritis
IMMUNE
NEUROLOGICAL
Vogt-Koyanagi-Harada syndrome
Syndrome
SPT (cockroach)
Graves' disease
pregnancy loss, recurrent
Arthritis, Rheumatoid
schizophrenia
gastric adenocarcinoma
atopy
METABOLIC
narcolepsy
rheumatic heart disease
ocular cicatricial pemphigoid
Lung Diseases
response to ximelagatran treatment
thyroiditis, Hashimoto's
lupus erythematosus
Graves disease
VISION
cholangitis, sclerosing
birth weight body mass
preeclampsia
psoriasis
Crohn's disease
renal disease, end stage
leukemia
pulmonary tuberculosis
SPT (HDM)
microscopic polyangiitis
(ANCA)-associated vasculitis
REPRODUCTION
diabetes, type 2
Anemia, Sickle Cell
SLE
cervical cancer
Autism
INFECTION
pancreatitis, chronic calcifying
X-linked adrenoleukodystrophy
sarcoidosis
Addison's disease
pemphigus foliaceus
recurrent respiratory papillomatosis
Polyendocrinopathies, Autoimmune
Desease Name
Type 1 diabetes
Rheumatoid arthritis
Multiple sclerosis
Arthritis (juvenile idiopathic)
Immunoglobulin A
Systemic lupus erythematosus
Lumiracoxib-related liver injury
Response to ximelagatran treatment
Desease Name
Multiple sclerosis, susceptibility to
Sarcoidosis, susceptibility l, 1
Pemphigoid, susceptibility to
Rheumatoid arthritis, susceptibility to
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001151 Arsenic Arsenic affects the expression of HLA-DRB1 mRNAaffects expression 18414638
D001241 Aspirin HLA-DRB1 gene SNP affects the susceptibility to Aspirinaffects response to substance 20485159
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of HLA-DRB1 mRNAdecreases expression 20106945
C020711 beryllium sulfate beryllium sulfate results in increased expression of HLA-DRB1 mRNAincreases expression 16314022
C020711 beryllium sulfate HLA-DRB1 protein mutant form results in increased susceptibility to beryllium sulfateincreases response to substance 16272364
D016572 Cyclosporine Cyclosporine results in decreased expression of HLA-DRB1 mRNAdecreases expression 20106945
C051890 irinotecan irinotecan analog results in increased expression of HLA-DRB1 mRNAincreases expression 18927307
C473384 lumiracoxib HLA-DRB1 gene SNP affects the susceptibility to lumiracoxibaffects response to substance 20639878
D008769 Methylnitronitrosoguanidine Methylnitronitrosoguanidine results in increased expression of HLA-DRB1 mRNAincreases expression 12634122
D011794 Quercetin Quercetin results in increased expression of HLA-DRB1 mRNAincreases expression 16455785
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of HLA-DRB1 mRNAdecreases expression 20055451
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0811752688 15322242 14514962
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0220127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.746695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6116835633
MESH:D018246 Adrenocortical Adenoma Arsenic 5.4817306315
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D000743 Anemia, Hemolytic Quercetin 4.4117084956
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2919183758
MESH:D020261 Arsenic Poisoning Arsenic 2.9116251483 12569548 18414634 16835338
MESH:D001172 Arthritis, Rheumatoid marker/mechanism 20453842 19898480
MESH:D001249 Asthma marker/mechanism 16792590
MESH:D055963 Asthma, Aspirin-Induced Aspirin 4.8420485159 12372130
MESH:D001260 Ataxia Telangiectasia Quercetin 5.2115336622
MESH:D050197 Atherosclerosis Arsenic 3.3412928151 19371607
MESH:D001321 Autistic Disorder marker/mechanism 8765331
MESH:D001327 Autoimmune Diseases Quercetin 4.6219761891
MESH:D001607 Berylliosis marker/mechanism 16272364 17927685
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2112125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D001932 Brain Neoplasms Aspirin 4.5815481559
MESH:D001943 Breast Neoplasms Aspirin 2.0115161893
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0117474063 20146248
MESH:D001943 Breast Neoplasms Quercetin 2.0118628248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0120435547
MESH:D002105 Cadmium Poisoning Quercetin 5.8116962696
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6815504454 17687452
MESH:D006528 Carcinoma, Hepatocellular Arsenic 3.4116507464 17306315
MESH:D006528 Carcinoma, Hepatocellular Quercetin 3.4119519916 12508355
MESH:D021441 Carcinoma, Pancreatic Ductal Quercetin 5.1717234771
MESH:D002294 Carcinoma, Squamous Cell Arsenic 4.8618922899 17687452 15504454
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.8620419170
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.2418640142
MESH:D006332 Cardiomegaly Quercetin 7.0919794523
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.0916120746 18850075 18670907
MESH:D002318 Cardiovascular Diseases Arsenic 3.5617938729 15738583 19152805
MESH:D002340 Carotid Artery Diseases Arsenic 4.4618022660 16973168
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.4112371664
MESH:D002471 Cell Transformation, Neoplastic Methylnitronitrosoguanidine 7.412727394
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis Cyclosporine 3.0419486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.168697196 15340226 15668235 12621046 16354765
MESH:D003110 Colonic Neoplasms Aspirin 6.2112411196
MESH:D003110 Colonic Neoplasms irinotecan 6.2117287894 17725105
MESH:D003110 Colonic Neoplasms Quercetin 6.2119440933 11134977 17191121 17148506 16640504 19056647 15741050
MESH:D015179 Colorectal Neoplasms Aspirin 3.7317047198
MESH:D015179 Colorectal Neoplasms irinotecan 3.7317159606 15273666 18259882 17454858 16391804 16303861 18509181
MESH:D015179 Colorectal Neoplasms Quercetin 3.7318095365 18852136
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003921 Diabetes Mellitus, Experimental Quercetin 3.8719496084
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D004342 Drug Hypersensitivity marker/mechanism 20485159
MESH:D056486 Drug-Induced Liver Injury lumiracoxib 4.7820639878
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.7820420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004487 Edema Aspirin 7.6317259670
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.6311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1810568697 9294722
MESH:D016603 Eosinophilia-Myalgia Syndrome marker/mechanism 19790128
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0416530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Cyclosporine 3.0319224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005355 Fibrosis Cyclosporine 16.0812168785 12639820
MESH:D005355 Fibrosis Quercetin 16.0819474275
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 16.0820067830
MESH:D005534 Foot Diseases Arsenic 5.826392382
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.468708960
MESH:D005909 Glioblastoma Aspirin 7.9612870263
MESH:D005909 Glioblastoma Quercetin 7.9619804834
MESH:D005910 Glioma Quercetin 3.1117643826
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006261 Headache Aspirin 5.2215240983
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.7220471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.7210048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1115340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.318697196 16959395 15340226 18606429 16354765
MESH:D012001 Hyperacusis Aspirin 6.0315240983
MESH:D006943 Hyperglycemia Quercetin 4.1911834736 18262572
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.6217050553
MESH:D006973 Hypertension Arsenic 12.8616076760 11953799 9931084
MESH:D006973 Hypertension Cyclosporine 12.8610903974
MESH:D006973 Hypertension Quercetin 12.8618356687
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 12.8618850075 18670907
MESH:D006987 Hypesthesia Arsenic 5.8216093927
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9312200463 12878042
MESH:D007251 Influenza, Human Quercetin 4.7716624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007627 Keloid Quercetin 5.1717086741
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7115604871
MESH:D007642 Keratosis Arsenic 5.2312749816 16930632
MESH:D007674 Kidney Diseases Cyclosporine 6.438314463 10903974 18776723
MESH:D007674 Kidney Diseases Quercetin 6.4316962696
MESH:D007680 Kidney Neoplasms Cyclosporine 2.8812371664
MESH:D007938 Leukemia Quercetin 3.2317468513
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.6617339181
MESH:D008106 Liver Cirrhosis, Experimental Quercetin 2.4912741479
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.4912878042
MESH:D008107 Liver Diseases Arsenic 2.5711134558
MESH:D008113 Liver Neoplasms Arsenic 11.2116368122
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.2120195826 21137059
MESH:D008113 Liver Neoplasms Quercetin 11.2118980244
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.2116984957
MESH:D008114 Liver Neoplasms, Experimental Quercetin 6.2619519916
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2612151625
MESH:D008175 Lung Neoplasms Arsenic 5.0019168569 17306315 17976673
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 5.0018816296 20869020 20464547 17053015 18569708 6695378 20135361 18520028 20064080
MESH:D008175 Lung Neoplasms Quercetin 5.0016280456
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 5.0011884234 19555203
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0516801185
MESH:D053842 Microsatellite Instability Methylnitronitrosoguanidine 6.1317671175
MESH:D008881 Migraine Disorders Aspirin 4.1815240983
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3216381670
MESH:D052016 Mucositis irinotecan 5.2517159606
MESH:D009103 Multiple Sclerosis marker/mechanism
MESH:D009203 Myocardial Infarction Aspirin 6.4612692751
MESH:D009203 Myocardial Infarction Quercetin 6.4619595682
MESH:D017202 Myocardial Ischemia Arsenic 9.4715371236
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 9.4712213967
MESH:D015428 Myocardial Reperfusion Injury Quercetin 3.9219207477
MESH:D009325 Nausea Aspirin 5.4815240983
MESH:D009362 Neoplasm Metastasis irinotecan 3.2318259882
MESH:D009369 Neoplasms Benzo(a)pyrene 5.3911141357
MESH:D009369 Neoplasms Quercetin 5.3915185748
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7117954296
MESH:D009404 Nephrotic Syndrome marker/mechanism 11095018
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4419348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D009436 Neural Tube Defects Arsenic 3.5616620997
MESH:D009447 Neuroblastoma irinotecan 3.568761367
MESH:D017599 Neuroectodermal Tumors irinotecan 4.978761367
MESH:D020078 Neurogenic Inflammation Arsenic 11.3117056641
MESH:D020078 Neurogenic Inflammation Quercetin 11.3117929310
MESH:D010003 Osteoarthritis Aspirin 9.027009135
MESH:D010003 Osteoarthritis lumiracoxib 9.0220639878
MESH:D015663 Osteoporosis, Postmenopausal Quercetin 4.4019495926
MESH:D010051 Ovarian Neoplasms Arsenic 5.3017306315
MESH:D010051 Ovarian Neoplasms Quercetin 5.3019005980
MESH:D010146 Pain Aspirin 8.496995502 6363464
MESH:D010146 Pain lumiracoxib 8.4920639878
MESH:D010190 Pancreatic Neoplasms Quercetin 2.9016965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D010438 Peptic Ulcer Hemorrhage Aspirin 5.7811156591
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.3816093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.2315371236 6392382 16905509
MESH:D020795 Photophobia Aspirin 6.0315240983
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011230 Precancerous Conditions Cyclosporine 9.6212371664
MESH:D011230 Precancerous Conditions Quercetin 9.6219056647
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4311222880 11118676 11399792 11896295
MESH:D011471 Prostatic Neoplasms Arsenic 2.6016140617
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.6017292933
MESH:D011471 Prostatic Neoplasms Quercetin 2.6014715546 17292933
MESH:D011507 Proteinuria Arsenic 4.1921343184
MESH:D011565 Psoriasis Cyclosporine 2.2816882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012220 Rhinitis Aspirin 4.5312372130
MESH:D012507 Sarcoidosis marker/mechanism 14508706
MESH:D012554 Schistosomiasis japonica Quercetin 5.8116862918
MESH:D012559 Schizophrenia marker/mechanism 16223876
MESH:D012851 Sinus Thrombosis, Intracranial Aspirin 5.4812269725
MESH:D012871 Skin Diseases Arsenic 2.7816759981 19834688 16702368 18709164 17548696 16353154 6392382 17938729 15952646 17050553 17453740
MESH:D012878 Skin Neoplasms Arsenic 9.8717050553 19538983 16251483 15504454 17029826 17976673
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 9.8710029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.8716192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.592093021 20155912
MESH:D013274 Stomach Neoplasms irinotecan 2.5915723263
MESH:D020521 Stroke Aspirin 4.5116403987
MESH:D013927 Thrombosis Aspirin 4.6717672075
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D001749 Urinary Bladder Neoplasms Arsenic 8.7617306315 17976673 15987713 18640142 11144890 19429237 19322015
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.7617053015
MESH:D001749 Urinary Bladder Neoplasms Quercetin 8.7616720314
MESH:D014581 Urticaria marker/mechanism 20485159
MESH:D014581 Urticaria Aspirin 4.6210982225 20485159
MESH:D014605 Uveitis Cyclosporine 4.251336536
MESH:D014652 Vascular Diseases Arsenic 4.9717056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
MESH:D014985 Xerophthalmia Cyclosporine 4.7117120751
Pathway ID Pathway Name
KEGG:05330 Allograft rejection
KEGG:04612 Antigen processing and presentation
KEGG:05310 Asthma
KEGG:05320 Autoimmune thyroid disease
KEGG:04514 Cell adhesion molecules (CAMs)
KEGG:05332 Graft-versus-host disease
KEGG:04640 Hematopoietic cell lineage
KEGG:04672 Intestinal immune network for IgA production
KEGG:05140 Leishmaniasis
KEGG:04145 Phagosome
KEGG:05323 Rheumatoid arthritis
REACT:6900 Signaling in Immune system
KEGG:05150 Staphylococcus aureus infection
KEGG:05322 Systemic lupus erythematosus
KEGG:05145 Toxoplasmosis
KEGG:05152 Tuberculosis
KEGG:04940 Type I diabetes mellitus
KEGG:05416 Viral myocarditis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA35072
    • No data
    Releated disease ID Related disease Name
    PA444859Malaria
    PA443888Diabetes Mellitus, Type 1
    PA444750Leukemia
    PA443557Brain Neoplasms
    PA444987Multiple Sclerosis
    PA443434Arthritis, Rheumatoid
    PA443341Anemia, Aplastic
    PA445481Purpura, Thrombotic Thrombocytopenic
    PA444620Inflammation
    PA445174Osteoarthritis
    PA445208Pain
    PA443937Drug Toxicity
    PA444801Liver Diseases
    PA443224Abnormalities, Drug-Induced
    PA164925725Toxic liver disease
    Releated drug ID Related drug Name
    PA449167cyclosporine
    PA451578tacrolimus
    PA451788trimethoprim
    PA451999interferons
    PA164743471adenosine triphosphate
    PA161748474ximelagatran
    PA449167cyclosporine
    PA451686ticlopidine
    PA451096prednisolone
    PA164769031lumiracoxib
    Drug Bank Top

    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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