AutismKB 2.0

Annotation Detail for CBFA2T2


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Basic Information Top
Gene Symbol:CBFA2T2 ( DKFZp313F2116,EHT,MTGR1,ZMYND3,p85 )
Gene Full Name: core-binding factor, runt domain, alpha subunit 2; translocated to, 2
Band: 20q11.21-q11.22
Quick LinksEntrez ID:9139; OMIM: 603672; Uniprot ID:MTG8R_HUMAN; ENSEMBL ID: ENSG00000078699; HGNC ID: 1536
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
D016572 Cyclosporine Cyclosporine results in increased expression of CBFA2T2 mRNAincreases expression 20106945
D013752 Tetracycline Tetracycline results in increased expression of CBFA2T2 mRNAincreases expression 16917069
D014501 Uranium Uranium affects the expression of CBFA2T2 mRNAaffects expression 15672453
C005460 uranyl acetate uranyl acetate affects the expression of CBFA2T2 mRNAaffects expression 15672453
D014635 Valproic Acid Valproic Acid results in decreased expression of CBFA2T2 mRNAdecreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.028875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3019490988
MESH:D000550 Amblyopia Valproic Acid 5.8517688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.8617497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9818940202 17688650 19232924 18316065 19460635 17507914 17157402 18985861 18396377 16609825 18775368 18558336 18177632 20603192 15238991
MESH:D001714 Bipolar Disorder Valproic Acid 3.2317594078 20046352
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.618888407
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7612371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8120734317
MESH:D002779 Cholestasis Cyclosporine 3.1719486331
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9016575769 17688650 8888407
MESH:D056486 Drug-Induced Liver Injury Tetracycline 4.5617522070
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.561733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.451851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.6417275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.533922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0920417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.916426943 7562514 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.787750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.603659116
MESH:D005234 Fatty Liver Cyclosporine 15.5019224547
MESH:D005234 Fatty Liver Tetracycline 15.5016917069 19224547
MESH:D005234 Fatty Liver Valproic Acid 15.5014986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.5016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.578888407 18558336
MESH:D005355 Fibrosis Cyclosporine 3.6212168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006849 Hydrocephalus Valproic Acid 5.4117688650
MESH:D006973 Hypertension Cyclosporine 2.2010903974
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5218776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0412371664
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1917596541 16294345
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.8717228818
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D008881 Migraine Disorders Valproic Acid 3.4418803445 18765137
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.408888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3317596541
MESH:D009395 Nephritis, Interstitial Tetracycline 5.399884423
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6118481113 19348381
MESH:D009436 Neural Tube Defects Valproic Acid 3.348888407 16359493
MESH:D010391 Pemphigoid, Bullous Tetracycline 6.0411026799
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.3720603192
MESH:D017096 Prion Diseases Tetracycline 5.9510903871
MESH:D019310 Pseudolymphoma Valproic Acid 5.1511422049 12752131
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5819155313
MESH:D012559 Schizophrenia Valproic Acid 2.1019110320 15737665
MESH:D012640 Seizures Valproic Acid 2.9614763951 3137016 16876388 1511512 11044598 11738929 15475178 17978042
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0619490988
MESH:D013226 Status Epilepticus Valproic Acid 5.1512833885
MESH:D014178 Translocation, Genetic Valproic Acid 5.8517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.063119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.138888407
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
No data
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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