AutismKB 2.0

Annotation Detail for ABTB1


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Basic Information Top
Gene Symbol:ABTB1 ( BPOZ,BTB3,EF1ABP,MGC20585 )
Gene Full Name: ankyrin repeat and BTB (POZ) domain containing 1
Band: 3q21.3
Quick LinksEntrez ID:80325; OMIM: 608308; Uniprot ID:ABTB1_HUMAN; ENSEMBL ID: ENSG00000114626; HGNC ID: 18275
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
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of ABTB1 mRNAaffects expression 17555576
D013629 Tamoxifen Tamoxifen affects the expression of ABTB1 mRNAaffects expression 17555576
D014635 Valproic Acid Valproic Acid results in increased expression of ABTB1 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.4114745880
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.238875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.4119490988
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.8117505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8914692618
MESH:D000550 Amblyopia Valproic Acid 6.1017688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.9417497229
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.1211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.9115885639
MESH:D001321 Autistic Disorder Valproic Acid 1.9818396377 17157402 19460635 17688650 19232924 17507914 20603192 18316065 18558336 18985861 15238991 18177632 18775368 18940202 16609825
MESH:D001714 Bipolar Disorder Valproic Acid 3.2620046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.668888407
MESH:D001943 Breast Neoplasms Tamoxifen 2.1618821012 18351453 18997820 18984771 19288272 15668708 20065188 19155303 17049068 18425577 20390343 18855134 19066611 20135344 16818667 11161223 19244106 16202921 19487384 19289846 17440819 18629630 19059307 19103187 17242785 15565566 19410462 20005174 17261762 19142967 21138602 20544844 16273361 19011961 16873071 19115204 19084267 19221464 19200415 21152245 18815881 20859285 19189212 17893378 19189210
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 5.1619066611
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 1.8616924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 4.0617572228
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8320734317
MESH:D002779 Cholestasis Ethinyl Estradiol 3.2017681005 11677210 17333356 15861022 17110522 16919318 16105132
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.918888407 16575769 17688650
MESH:D003711 Demyelinating Diseases Tamoxifen 5.0219031437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.8919279558
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2619641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.581851702
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.9612538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.9619031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.3119155303 17893378 20544844 16202921
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.813659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.7816628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.1218234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 4.006426943 6254150 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.957750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.813659116
MESH:D005234 Fatty Liver Ethinyl Estradiol 16.0915345470
MESH:D005234 Fatty Liver Tamoxifen 16.0919224547 14986274
MESH:D005234 Fatty Liver Valproic Acid 16.0914986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4716709447
MESH:D005315 Fetal Diseases Valproic Acid 5.7516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.7118558336 8888407
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 5.2714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.9219069698
MESH:D006849 Hydrocephalus Valproic Acid 5.6117688650
MESH:D007021 Hypospadias Ethinyl Estradiol 4.4616945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9912013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7617937319
MESH:D007249 Inflammation Tamoxifen 2.5519457130
MESH:D007680 Kidney Neoplasms Tamoxifen 3.4318625569
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2016294345 17596541
MESH:D008064 Lipidoses Tamoxifen 3.4617567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 1.7518564211
MESH:D008113 Liver Neoplasms Tamoxifen 2.3416684651
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 5.1317228818
MESH:D008175 Lung Neoplasms Tamoxifen 1.7518625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.5019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8816827153 19196722 19196723 14580682 11731420
MESH:D020149 Manganese Poisoning Tamoxifen 5.4119453300
MESH:D008545 Melanoma Tamoxifen 1.9219393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.9215990972
MESH:D008881 Migraine Disorders Valproic Acid 3.5018765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.518888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3717596541
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6819393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6219410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.8719200415 19196722 19189210
MESH:D009436 Neural Tube Defects Valproic Acid 3.3916359493 8888407
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.2211578682
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.5720603192
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0815067354
MESH:D011537 Pruritus Ethinyl Estradiol 4.0516919318 15861022
MESH:D019310 Pseudolymphoma Valproic Acid 5.4112752131 11422049
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.7019155313
MESH:D012559 Schizophrenia Valproic Acid 2.1115737665 19110320
MESH:D012640 Seizures Valproic Acid 3.0211738929 14763951 1511512 16876388 17978042 15475178 3137016 11044598
MESH:D013088 Spermatocele Ethinyl Estradiol 14.6716709447
MESH:D013088 Spermatocele Tamoxifen 14.6716709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.7819457130
MESH:D016135 Spinal Dysraphism Valproic Acid 4.1319490988
MESH:D013226 Status Epilepticus Valproic Acid 5.4112833885
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.1511994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5715669648
MESH:D014178 Translocation, Genetic Valproic Acid 6.1017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.263119515
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.4917572228 8653321 16712894
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.308888407
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8814692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 4.0215869587 14671159
No data
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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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