AutismKB 2.0

Annotation Detail for ZBTB48


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ZBTB48 ( HKR3,ZNF855,pp9964 )
Gene Full Name: zinc finger and BTB domain containing 48
Band: 1p36.31
Quick LinksEntrez ID:3104; OMIM: 165270; Uniprot ID:ZBT48_HUMAN; ENSEMBL ID: ENSG00000204859; HGNC ID: 4930
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of ZBTB48 mRNAaffects expression 21346803
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ZBTB48 mRNAaffects cotreatment|increases expression 17942748
C044361 M-VAC protocol ZBTB48 protein results in decreased susceptibility to M-VAC protocoldecreases response to substance 15814643
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ZBTB48 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4715322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.6617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.0116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 1.7916705839
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5616120746 18670907 18850075
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1717110522 17681005 15861022 16105132 17333356 16919318 11677210
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2415340226 8697196 12621046 16354765 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 15322242 20055451
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.5818551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 4.0018551238 21346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6912538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.429294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.2415345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5111294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.4515340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7716959395 16354765 8697196 15340226 18606429
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.3716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7317937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.3216705839
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8316984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3312151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.4918551238
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.8216049721 12819281
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211896295 11118676 11222880 11399792
MESH:D011537 Pruritus Ethinyl Estradiol 3.9416919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7918551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.6616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.4116049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 14.8310091137
MESH:D014571 Urologic Neoplasms M-VAC protocol 14.8317933135
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9715869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA162409481
  • No data
    Releated disease ID Related disease Name
    PA446329Motor Neuron Disease
    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