AutismKB 2.0

Annotation Detail for FLNA


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Basic Information Top
Gene Symbol:FLNA ( ABP-280,ABPX,DKFZp434P031,FLN,FLN1,FMD,MNS,NHBP,OPD,OPD1,OPD2 )
Gene Full Name: filamin A, alpha
Band: Xq28
Quick LinksEntrez ID:2316; OMIM: 300017; Uniprot ID:FLNA_HUMAN; ENSEMBL ID: ENSG00000196924; HGNC ID: 3754
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04010MAPK signaling pathway
hsa04510Focal adhesion
Pathway IDPathway Name
Hemostasis
Cell junction organization
Pathway IDPathway Name
200016Noncanonical Wnt signaling pathway
200022TCR signaling in naive CD4+ T cells
Pathway IDPathway Name
P00034Integrin signalling pathway
No data
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Frontometaphyseal dysplasia
Melnick-Needles syndrome
Heterotopia, periventricular, ED variant
Otopalatodigital syndrome, type II
Intestinal pseudoobstruction, neuronal
Heterotopia, periventricular
FG syndrome 2
Cardiac valvular dysplasia-1
Otopalatodigital syndrome, type I
Cardiac valvu
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016601 4-hydroxytamoxifen 4-hydroxytamoxifen results in increased expression of FLNA mRNAincreases expression 19698761
D000082 Acetaminophen Acetaminophen affects the expression of FLNA mRNAaffects expression 17562736
D016572 Cyclosporine Cyclosporine results in increased expression of FLNA mRNAincreases expression 20106945
D004610 Ellagic Acid Ellagic Acid results in decreased expression of FLNA mRNAdecreases expression 12002526
D004958 Estradiol Estradiol results in increased expression of FLNA mRNAincreases expression 19698761
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of FLNA mRNAaffects cotreatment|increases expression 17942748
C058305 phenethyl isothiocyanate phenethyl isothiocyanate results in decreased expression of FLNA mRNAdecreases expression 17616710
D012643 Selenium Selenium results in increased expression of FLNA mRNAincreases expression 19244175
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of FLNA mRNAincreases expression 11489354
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of FLNA mRNAaffects cotreatment|increases expression 17942748
C025643 vinclozolin vinclozolin affects the expression of FLNA mRNAaffects expression 19015723
D014810 Vitamin E Vitamin E results in increased expression of FLNA mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0415322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D000230 Adenocarcinoma Estradiol 4.3211473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3214692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D001008 Anxiety Disorders vinclozolin 3.7519015723
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D001943 Breast Neoplasms Estradiol 1.9212948864 19861407 17289903 17261762 16675129 17018787 14630087 18497071
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9220435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.6616111702
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1116050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.883084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 2.8816924424
MESH:C535576 Cardiac valvular dysplasia, X-linked marker/mechanism
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.6610977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.8912371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 6.8918566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis Cyclosporine 8.1219486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.1217333356 16105132 15861022 11677210 17110522 17681005 16919318
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1515668235 15340226 16354765 8697196 12621046
MESH:D003092 Colitis Selenium 3.9517936198
MESH:D003093 Colitis, Ulcerative phenethyl isothiocyanate 3.6920423518
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5220055451 10048152 15322242
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5219769572
MESH:D003456 Cryptorchidism vinclozolin 4.5014966744
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.5419279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.3610774834 19739265 12153990 10915739 15619225 17906064 2444490 14725611 19923254 16227642 19420014 11529661 14550746 16781746 18713872 11287661 11743745 11461765 12392966 16081117 11739529 17522070 12540782 14986274 15968718 11421492 16177239 12705907 16393943 11834606 19370779 16109766 16485898 19416960 12594235 10663392 19164858 18071297 17562736 12958197 19085960
MESH:D056486 Drug-Induced Liver Injury Selenium 6.3615131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.3620420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:C538011 Eales disease Vitamin E 4.929068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3512538720
MESH:D016889 Endometrial Neoplasms 4-hydroxytamoxifen 8.0819148513
MESH:D016889 Endometrial Neoplasms Estradiol 8.0811473722 19148513 18566989
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.159294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver Cyclosporine 8.0519224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.0515345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
OMIM:300321 FG SYNDROME 2 marker/mechanism
MESH:D005355 Fibrosis Cyclosporine 9.0712639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.0720067830
MESH:C538064 Frontometaphyseal dysplasia marker/mechanism 16596676
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5216417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.418708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8010048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 6.8016080930
MESH:D006333 Heart Failure Selenium 3.1517162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0715340226 12621046 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7416490937 16863852
MESH:D006558 Herpes Genitalis Estradiol 5.2515709030
OMIM:300537 HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT marker/mechanism
OMIM:300049 HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT marker/mechanism
MESH:D019584 Hot Flashes Estradiol 10.7917088409
MESH:D019584 Hot Flashes Vitamin E 10.7914716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2618606429 15340226 16959395 16354765 8697196
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D006973 Hypertension Cyclosporine 5.1010903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1018670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 6.9617937319
MESH:D007248 Infertility, Male vinclozolin 6.9616467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9212878042 12200463
MESH:D007251 Influenza, Human Selenium 11.7016624496
MESH:D007251 Influenza, Human Vitamin E 11.7016624496
MESH:D007333 Insulin Resistance Estradiol 3.0516627594 16393666
OMIM:300048 INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED marker/mechanism
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6615604871
MESH:D007674 Kidney Diseases Acetaminophen 15.0515629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 15.058314463 10903974 18776723
MESH:D007674 Kidney Diseases Estradiol 15.0515618244
MESH:D007674 Kidney Diseases Vitamin E 15.0512488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0216518626
MESH:D007680 Kidney Neoplasms Cyclosporine 7.6712371664
MESH:D007680 Kidney Neoplasms Estradiol 7.6715610895
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9316417039
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.5314716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5312878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.5316169303
MESH:D008107 Liver Diseases Acetaminophen 1.6611587558 16611625 12587719 19460945 16610002 12969438 19784758 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3716871587 17185352
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.7616984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1912151625
MESH:D008171 Lung Diseases Vitamin E 3.2716863852
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3419555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 2.3411062179
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.3111408345 11807958 17203775 16891317
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.3115318939
MESH:D020149 Manganese Poisoning Estradiol 4.7019453300
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D008654 Mesothelioma Selenium 2.8415107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0116801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.3916810080
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9317289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4118481113 19348381
MESH:D009421 Nervous System Malformations Estradiol 10.0111399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.0114600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9918514411
MESH:D010009 Osteochondrodysplasias marker/mechanism
OMIM:311300 OTOPALATODIGITAL SYNDROME, TYPE I marker/mechanism 16596676 15940695
OMIM:304120 OTOPALATODIGITAL SYNDROME, TYPE II marker/mechanism 15378534
MESH:D010051 Ovarian Neoplasms Estradiol 2.2519401270
MESH:D010146 Pain Acetaminophen 2.5016870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D010954 Plasmacytoma Selenium 5.1115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.3512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.1411118676 11399792 11222880 11896295
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.1419015723 18220299 18042343
MESH:D011469 Prostatic Diseases vinclozolin 5.1318220299
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0220887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.2016740699
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2015084515
MESH:D011472 Prostatitis vinclozolin 5.1318629315
MESH:D011537 Pruritus Ethinyl Estradiol 3.5116919318 15861022
MESH:D011565 Psoriasis Cyclosporine 2.2716882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012871 Skin Diseases Vitamin E 2.4718709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1616709447
MESH:D020521 Stroke Vitamin E 3.6316517955
OMIM:300244 TERMINAL OSSEOUS DYSPLASIA marker/mechanism
MESH:D013733 Testicular Diseases phenethyl isothiocyanate 5.1415864552
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D013978 Tibial Fractures Estradiol 4.9019048282
MESH:D014581 Urticaria Acetaminophen 3.1210982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4614692618
MESH:D014605 Uveitis Cyclosporine 4.201336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6815869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.6617120751
Pathway ID Pathway Name
REACT:20676 Cell junction organization
KEGG:04510 Focal adhesion
REACT:604 Hemostasis
KEGG:04010 MAPK signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA28172
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA450379mercaptopurine
    PA450428methotrexate
    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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