AutismKB 2.0

Annotation Detail for WAS


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Basic Information Top
Gene Symbol:WAS ( IMD2,THC,THC1,WASP )
Gene Full Name: Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
Band: Xp11.23
Quick LinksEntrez ID:7454; OMIM: 300392; Uniprot ID:WASP_HUMAN; ENSEMBL ID: ENSG00000015285; HGNC ID: 12731
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05131Shigellosis
hsa05130Pathogenic Escherichia coli infection
hsa05100Bacterial invasion of epithelial cells
hsa04520Adherens junction
hsa04810Regulation of actin cytoskeleton
hsa04062Chemokine signaling pathway
hsa04666Fc gamma R-mediated phagocytosis
Pathway IDPathway Name
Signaling in Immune system
Pathway IDPathway Name
200022TCR signaling in naive CD4+ T cells
Pathway IDPathway Name
P00053T cell activation
Pathway IDPathway Name
500481Generation of second messenger molecules
Related Diseases/Disorders Top
Desease IDDesease Name
Immune system diseases
Primary immunodeficiency
H00107Other well-defined immunodeficiency syndromes
H00100Neutropenic disorders
Desease IDDesease Name
1730Disseminated cancer
2114Thrombocytopenia
2177Wiskott-Aldrich syndrome
Desease Name
X-linked thrombocytopenia
No data
Desease Name
Thrombocytopenia, X-linked
Wiskott-Aldrich syndrome
Neutropenia, severe congenital, X-linked
Thrombocytopenia, X-linked, intermittent
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of WAS mRNAaffects expression 17562736
C015001 arsenite arsenite results in decreased expression of WAS mRNAdecreases expression 18191166
C006780 bisphenol A bisphenol A results in increased expression of WAS mRNAincreases expression 15223131
C006780 bisphenol A bisphenol A results in increased expression of WAS mRNAincreases expression 18180321
D004958 Estradiol Estradiol results in increased expression of WAS mRNAincreases expression 15223131
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of WAS mRNAaffects expression 17555576
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of WAS mRNAaffects binding|increases activity|increases expression 19710929
D020849 Raloxifene Raloxifene results in decreased expression of WAS mRNAdecreases expression 15849065
D013629 Tamoxifen Tamoxifen results in decreased expression of WAS mRNAdecreases expression 15590111
D013629 Tamoxifen Tamoxifen affects the expression of WAS mRNAaffects expression 17555576
D014212 Tretinoin Tretinoin results in increased expression of WAS mRNAincreases expression 16140955
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.8714745880
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D000230 Adenocarcinoma Estradiol 4.3711473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3714692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.7616434500
MESH:D000419 Albuminuria Raloxifene 4.8317308373 17451421
MESH:D000505 Alopecia Tretinoin 3.7815955085
MESH:D000544 Alzheimer Disease Raloxifene 2.5815800139
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.6015885639
MESH:D001169 Arthritis, Experimental Tretinoin 7.6016412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3016292516
MESH:D001249 Asthma Tretinoin 2.3916456186
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001471 Barrett Esophagus Tretinoin 4.6416935849
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.6719483382
MESH:D001778 Blood Coagulation Disorders Tretinoin 9.6716206674 16197459
MESH:D001862 Bone Resorption bisphenol A 4.0711985600
MESH:D001930 Brain Injuries Raloxifene 4.7316580743
MESH:D001943 Breast Neoplasms bisphenol A 2.4017123778
MESH:D001943 Breast Neoplasms Estradiol 2.4016675129 17289903 19861407 17018787 17261762 18497071 14630087 12948864
MESH:D001943 Breast Neoplasms Raloxifene 2.4017242785 15758505 17595753 17440819 16837676 15572757 17893378 16912660 17261762 17049068 17952589 15775269
MESH:D001943 Breast Neoplasms Tamoxifen 2.4018855134 19221464 16273361 20544844 20135344 19200415 19059307 18815881 18351453 17440819 18629630 19115204 11161223 17049068 16202921 19289846 19103187 20390343 19142967 15565566 18997820 18821012 15668708 19155303 17261762 19011961 19487384 16818667 19066611 18425577 19288272 17242785 19189212 18984771 19244106 19084267 16873071 20005174 21152245 19189210 21138602 20859285 17893378 19410462 20065188
MESH:D001943 Breast Neoplasms Tretinoin 2.4016443354 16873071 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.8816813970
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.7516111702
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.7619066611
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.4816168501
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.783084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.7816924424
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.7816924424
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 6.781917145
MESH:D002278 Carcinoma in Situ bisphenol A 5.2717123778
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3416051514 16096774
MESH:D002295 Carcinoma, Transitional Cell Raloxifene 10.1517572228
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 10.1517572228
MESH:D002318 Cardiovascular Diseases Raloxifene 3.5815775269
MESH:D002386 Cataract Acetaminophen 7.6010977129
MESH:D002386 Cataract Tretinoin 7.6017460283
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.9118566989
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.8816129372
MESH:D002779 Cholestasis Ethinyl Estradiol 8.2517333356 17110522 17681005 16105132 15861022 16919318 11677210
MESH:D002779 Cholestasis pirinixic acid 8.2519176532
MESH:D002822 Choriocarcinoma Tretinoin 5.4816461808
MESH:D002972 Cleft Palate Tretinoin 2.749407595
MESH:D003072 Cognition Disorders Raloxifene 4.8815800139
MESH:D003092 Colitis Tretinoin 3.9617035595
MESH:D003110 Colonic Neoplasms arsenite 2.6115037631
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.839664655 9224671 8800419 9211117 14991402 9142499 17551590 16925845 10589399 9125849
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6219031437
MESH:D003865 Depressive Disorder, Major Raloxifene 4.3417474826
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003928 Diabetic Nephropathies Estradiol 16.1219279558
MESH:D003928 Diabetic Nephropathies Raloxifene 16.1215920148 17308373 17451421
MESH:D003928 Diabetic Nephropathies Tamoxifen 16.1219279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6317562736 11739529 2444490 19164858 16393943 12540782 19085960 11287661 14986274 10663392 16485898 10774834 11421492 14725611 15968718 17906064 17522070 12594235 12958197 18713872 16109766 10915739 19370779 16227642 16177239 19739265 16081117 11743745 19923254 11834606 12705907 12392966 19416960 19420014 16781746 12153990 11461765 15619225 18071297 14550746 11529661
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D004487 Edema pirinixic acid 7.5812083418
MESH:D004487 Edema Raloxifene 7.5815860553
MESH:D004489 Edema, Cardiac Tretinoin 4.7818230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 16.7912538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Raloxifene 16.7915845917
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 16.7919031437
MESH:D016889 Endometrial Neoplasms Estradiol 13.1811473722 18566989 19148513
MESH:D016889 Endometrial Neoplasms Tamoxifen 13.1819155303 20544844 16202921 17893378
MESH:D016889 Endometrial Neoplasms Tretinoin 13.1816569247
MESH:D005124 Eye Abnormalities Tretinoin 3.7316938888 9664655
MESH:D005234 Fatty Liver arsenite 27.0318296743
MESH:D005234 Fatty Liver Ethinyl Estradiol 27.0315345470
MESH:D005234 Fatty Liver pirinixic acid 27.0319236843 20131406
MESH:D005234 Fatty Liver Raloxifene 27.0317473493
MESH:D005234 Fatty Liver Tamoxifen 27.0314986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3516709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8114745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.4719069698
MESH:D005355 Fibrosis arsenite 9.9118296743
MESH:D005355 Fibrosis Tretinoin 9.9117994277
MESH:D005756 Gastritis Acetaminophen 3.9916983495
MESH:D005909 Glioblastoma Tretinoin 3.1317312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3216096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.4816084493
MESH:D006330 Heart Defects, Congenital Tretinoin 2.999664655 14991402
MESH:D006331 Heart Diseases Raloxifene 3.6711110106
MESH:D006333 Heart Failure pirinixic acid 2.6520558911
MESH:D006529 Hepatomegaly pirinixic acid 3.2519772884 18467677 16221962 19176532
MESH:D006558 Herpes Genitalis Estradiol 5.3515709030
MESH:D019584 Hot Flashes Estradiol 4.0717088409
MESH:D006930 Hyperalgesia Acetaminophen 8.1816870215
MESH:D006930 Hyperalgesia Tretinoin 8.1816870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.8316778211
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D006973 Hypertension Raloxifene 2.9317577099 15787275
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6217937319
MESH:D007249 Inflammation Tamoxifen 2.4519457130
MESH:D007333 Insulin Resistance bisphenol A 13.0716393666
MESH:D007333 Insulin Resistance Estradiol 13.0716393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 13.0716306350
MESH:D007410 Intestinal Diseases Tretinoin 4.0217994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.1117551590 15992940
MESH:D007674 Kidney Diseases Acetaminophen 6.2515629191 12587719
MESH:D007674 Kidney Diseases Estradiol 6.2515618244
MESH:D007680 Kidney Neoplasms Estradiol 7.9715610895
MESH:D007680 Kidney Neoplasms Tamoxifen 7.9718625569
MESH:D007889 Leiomyoma Raloxifene 4.7216973256
MESH:D007938 Leukemia Tretinoin 2.8617143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.9016482212 19285840 16932348
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1019850784 16294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.2817368321 19075265 19035177 16935935 9834237 17649720 17712046 19225113 17339181 16788101 17217047 17506722 17107899 19029980 19642359 16766008 17301526 15748426 16331271 17294898 16140955 17361223 16891316 12679006 16823087
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.459224671
MESH:D008064 Lipidoses Tamoxifen 3.3017567588 15342952
MESH:D008103 Liver Cirrhosis arsenite 3.5218296743
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 5.1114716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 5.1115474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 5.1118564211
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 5.1118397230 16248980
MESH:D008107 Liver Diseases Acetaminophen 1.6712969438 11587558 16611625 19460945 19014921 16610002 12587719 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4316871587 17185352
MESH:D008113 Liver Neoplasms pirinixic acid 4.6620007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tamoxifen 4.6616684651
MESH:D008175 Lung Neoplasms arsenite 2.7116809336
MESH:D008175 Lung Neoplasms Tamoxifen 2.7118625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.0419428831
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.3916891317 11807958 17203775 11408345
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.3916827153 11731420 19196722 19196723 14580682
MESH:D020149 Manganese Poisoning Estradiol 13.7319453300
MESH:D020149 Manganese Poisoning Tamoxifen 13.7319453300
MESH:D008527 Medulloblastoma Tretinoin 2.8517453147
MESH:D008545 Melanoma Tamoxifen 3.3812393984 19393235
MESH:D008545 Melanoma Tretinoin 3.3816752155
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.4715990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D008591 Meningomyelocele Tretinoin 4.6816940565
MESH:D018200 Mixed Tumor, Mullerian Raloxifene 5.8715863610
MESH:D009101 Multiple Myeloma Raloxifene 3.5816497877
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.1917596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.7816810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.7816411023
MESH:D009232 Myxoma Raloxifene 5.8716343187
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6119393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5719410462
MESH:D009369 Neoplasms pirinixic acid 5.2117405874
MESH:D009369 Neoplasms Tretinoin 5.2116946489 16594593
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3219189210 19200415 19196722
MESH:D009389 Neovascularization, Pathologic arsenite 11.1215738583
MESH:D009389 Neovascularization, Pathologic Estradiol 11.1217289903
MESH:D009421 Nervous System Malformations bisphenol A 17.8811399458 16427766
MESH:D009421 Nervous System Malformations Estradiol 17.8816427766 11399458
MESH:D009421 Nervous System Malformations Tretinoin 17.889125849
MESH:D009436 Neural Tube Defects Tretinoin 3.189142499
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0418514411
OMIM:300299 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED marker/mechanism
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010024 Osteoporosis Raloxifene 3.5119059307 17882678 15775268
MESH:D015663 Osteoporosis, Postmenopausal Raloxifene 4.4517823083 15579764 17893378 15758505
MESH:D010049 Ovarian Diseases bisphenol A 5.2711985600
MESH:D010051 Ovarian Neoplasms Estradiol 4.9919401270
MESH:D010051 Ovarian Neoplasms Tretinoin 4.9916936753
MESH:D010146 Pain Acetaminophen 7.1616870215
MESH:D010146 Pain Tretinoin 7.1616870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5215976015
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 4.2410548101
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 11.2520887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 11.2520887781
MESH:D011471 Prostatic Neoplasms bisphenol A 2.0616740699
MESH:D011471 Prostatic Neoplasms Estradiol 2.0616740699
MESH:D011471 Prostatic Neoplasms Raloxifene 2.0615731164 16220300 16536755
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.0615067354
MESH:D011507 Proteinuria Tretinoin 3.8216636307
MESH:D011537 Pruritus Ethinyl Estradiol 3.6016919318 15861022
MESH:D011625 Pterygium Tretinoin 5.0816723453
MESH:D011629 Puberty, Precocious bisphenol A 5.0710548101
MESH:D011693 Purpura Raloxifene 5.8715770314
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.3216283617 16116481
MESH:D012878 Skin Neoplasms Tretinoin 2.6916467112
MESH:D013088 Spermatocele Ethinyl Estradiol 12.6516709447
MESH:D013088 Spermatocele Tamoxifen 12.6516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.3219457130
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D020521 Stroke Raloxifene 3.9816837676
MESH:D019966 Substance-Related Disorders bisphenol A 4.2716684133 16045194
MESH:D013921 Thrombocytopenia marker/mechanism
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013964 Thyroid Neoplasms Tretinoin 3.1816026305 17045167
MESH:D013978 Tibial Fractures Estradiol 14.8019048282
MESH:D013978 Tibial Fractures Raloxifene 14.8019048282
MESH:D014062 Tongue Neoplasms Tretinoin 3.9816051514
MESH:D014376 Tuberculosis Tretinoin 3.3416040207
MESH:D001749 Urinary Bladder Neoplasms Raloxifene 5.4617572228
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.4617572228 8653321 16712894
MESH:D014581 Urticaria Acetaminophen 3.2010982225
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.8716129372
MESH:D014591 Uterine Diseases bisphenol A 5.3314652134
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D014604 Uveal Neoplasms Tretinoin 4.9316752155
MESH:D054556 Venous Thromboembolism Raloxifene 5.5316837676
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7514671159 15869587
MESH:D014820 Vitiligo Tretinoin 4.2916761959
MESH:D014846 Vulvar Neoplasms Raloxifene 5.8716343187
MESH:D009396 Wilms Tumor Tretinoin 4.1516287080
MESH:D014923 Wiskott-Aldrich Syndrome marker/mechanism
Pathway ID Pathway Name
KEGG:04520 Adherens junction
KEGG:05100 Bacterial invasion of epithelial cells
KEGG:04062 Chemokine signaling pathway
KEGG:04666 Fc gamma R-mediated phagocytosis
KEGG:05130 Pathogenic Escherichia coli infection
KEGG:04810 Regulation of actin cytoskeleton
KEGG:05131 Shigellosis
REACT:6900 Signaling in Immune system
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB01731 - (S)-Wiskostatin
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