AutismKB 2.0

Annotation Detail for IKBKAP


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Basic Information Top
Gene Symbol:IKBKAP ( DKFZp781H1425,DYS,ELP1,FD,FLJ12497,IKAP,IKI3,TOT1 )
Gene Full Name: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Band: 9q31
Quick LinksEntrez ID:8518; OMIM: 603722; Uniprot ID:ELP1_HUMAN; ENSEMBL ID: ENSG00000070061; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
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Pathway IDPathway Name
P00047PDGF signaling pathway
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
Bronchial asthma (childhood & adult)
CARDIOVASCULAR
Bronchial asthma (childhood only)
blood pressure, arterial hypertension
IMMUNE
No data
Desease Name
Dysautonomia, familial
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of IKBKAP mRNAaffects expression 21346803
C027576 4-hydroxy-2-nonenal 4-hydroxy-2-nonenal results in decreased expression of IKBKAP mRNAdecreases expression 12419474
D000082 Acetaminophen Acetaminophen affects the expression of IKBKAP mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone results in increased expression of IKBKAP mRNAincreases expression 19774075
D000643 Ammonium Chloride Ammonium Chloride affects the expression of IKBKAP mRNAaffects expression 16483693
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of IKBKAP mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of IKBKAP mRNAaffects cotreatment|increases expression 17942748
D008628 Mercury Mercury results in decreased expression of IKBKAP mRNAdecreases expression 16823088
D012643 Selenium Selenium results in decreased expression of IKBKAP mRNAdecreases expression 19244175
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of IKBKAP mRNAdecreases expression 20106945
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of IKBKAP mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of IKBKAP mRNAincreases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1314514962 15322242 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6616835633
MESH:D000690 Amyotrophic Lateral Sclerosis 4-hydroxy-2-nonenal 4.2210965797
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.9918057881 20041841 18218290
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001281 Atrial Fibrillation Amiodarone 4.0518651412 19698954
MESH:D001321 Autistic Disorder Acetaminophen 2.1418445737
MESH:D001321 Autistic Disorder Mercury 2.1417497416
MESH:D001327 Autoimmune Diseases Mercury 5.1316634805
MESH:D001778 Blood Coagulation Disorders Amiodarone 9.7419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.7412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6920435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 2.9016705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.903084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718850075 18670907 16120746
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 6.3615710769 19225199
MESH:D002311 Cardiomyopathy, Dilated Mercury 6.3610334427
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.3718974383
MESH:D002386 Cataract Acetaminophen 2.6910977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.906135515
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0211677210 16919318 17110522 17681005 15861022 16105132 17333356
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.188697196 12621046 15340226 15668235 16354765
MESH:D003092 Colitis Selenium 4.0417936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.2818551238
MESH:D017449 Dermatitis, Allergic Contact Mercury 4.0516823706
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 12.5918551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.5919420014 12705907 18713872 10915739 12540782 19085960 19370779 15968718 14550746 11421492 12392966 14725611 11743745 17906064 16485898 11461765 10663392 17522070 11739529 16781746 17562736 18071297 16393943 16177239 19923254 19739265 10774834 11287661 11529661 19416960 19164858 14986274 15619225 11834606 12594235 12958197 2444490 16109766 12153990 16081117 16227642
MESH:D056486 Drug-Induced Liver Injury Amiodarone 12.5918218290 15265979
MESH:D056486 Drug-Induced Liver Injury Selenium 12.5915131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.5920420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2216714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4212538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2110568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Amiodarone 8.5114986274
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.5115345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2120067830
MESH:D005756 Gastritis Acetaminophen 3.9916983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4310048152 11294989
MESH:D006333 Heart Failure Selenium 3.1917162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly Amiodarone 9.4115265979
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.4116120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3615340226 18606429 8697196 16354765 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.8616870215
MESH:D006937 Hypercholesterolemia Amiodarone 4.088137927 9751232
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9718670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716569931 16945680
MESH:D007037 Hypothyroidism Amiodarone 4.7717991464 18020914
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6217937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9512878042 12200463
MESH:D007251 Influenza, Human Selenium 4.5116624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007674 Kidney Diseases Acetaminophen 6.6115629191 12587719
MESH:D007674 Kidney Diseases Mercury 6.6117934191
MESH:D007676 Kidney Failure, Chronic Selenium 4.0916518626
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.1516705839
MESH:D008064 Lipidoses Amiodarone 3.6515342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Acetaminophen 1.6719014921 12587719 19460945 16610002 19784758 16611625 12969438 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4317185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.597678174
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.5916984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.142876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.1412151625
MESH:D008133 Long QT Syndrome Amiodarone 3.7311989578 15350150 17391786
MESH:D008171 Lung Diseases Amiodarone 3.5012587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.8018516814
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.8815318939
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D008654 Mesothelioma Selenium 2.8615107826
MESH:D009181 Mycoses Amiodarone 5.2212754197 17974566
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.157678174 18551238
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0418514411
OMIM:223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III marker/mechanism
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.6216049721
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D010787 Photosensitivity Disorders 4-hydroxy-2-nonenal 5.8211550810
MESH:D010954 Plasmacytoma Selenium 5.2115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811118676 11896295 11222880 11399792
MESH:D011537 Pruritus Ethinyl Estradiol 3.6016919318 15861022
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9211597910 12490602 12832656
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6718551238
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.3718724381
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1316192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2616709447
MESH:D013276 Stomach Ulcer Amiodarone 3.5218087811
MESH:D013610 Tachycardia Amiodarone 4.5311238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.4319225199
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Amiodarone 13.1419731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 13.1412697716
MESH:D013971 Thyrotoxicosis Amiodarone 5.1218020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.4717467628 11989578
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3516049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.6010091137
MESH:D014581 Urticaria Acetaminophen 3.2010982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7514671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA29775
    • No data
    Releated disease ID Related disease Name
    PA443434Arthritis, Rheumatoid
    No data
    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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