AutismKB 2.0

Annotation Detail for ESF1


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Basic Information Top
Gene Symbol:ESF1 ( ABTAP,C20orf6,FLJ20368,bA526K24.1 )
Gene Full Name: ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)
Band: 20p12.1
Quick LinksEntrez ID:51575; OMIM: NA; Uniprot ID:ESF1_HUMAN; ENSEMBL ID: ENSG00000089048; HGNC ID: 15898
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
D000082 Acetaminophen Acetaminophen affects the expression of ESF1 mRNAaffects expression 17562736
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in increased expression of ESF1 mRNAincreases expression 18687144
D016572 Cyclosporine Cyclosporine results in increased expression of ESF1 mRNAincreases expression 20106945
C058305 phenethyl isothiocyanate phenethyl isothiocyanate results in decreased expression of ESF1 mRNAdecreases expression 17616710
C004648 testosterone enanthate testosterone enanthate affects the expression of ESF1 mRNAaffects expression 17440010
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of ESF1 mRNAincreases expression 20106945
C025643 vinclozolin vinclozolin affects the expression of ESF1 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2414514962 11752688 15322242
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D000799 Angioedema Acetaminophen 4.2910982225
MESH:D001008 Anxiety Disorders vinclozolin 3.8619015723
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6820435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018670907 18850075 16120746
MESH:D002386 Cataract Acetaminophen 2.7310977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7112371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Cyclosporine 3.1219486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2015340226 8697196 16354765 12621046 15668235
MESH:D003093 Colitis, Ulcerative phenethyl isothiocyanate 3.7220423518
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003456 Cryptorchidism vinclozolin 4.6714966744
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.7810663392 19923254 17906064 2444490 18713872 11529661 12153990 12540782 16227642 14550746 12392966 12594235 19739265 15619225 10915739 11739529 16081117 19164858 11421492 11743745 19416960 10774834 12958197 19420014 16781746 16393943 14725611 14986274 16109766 17522070 19085960 11834606 12705907 11461765 16177239 15968718 19370779 11287661 17562736 16485898 18071297
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.7820420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.5419426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3518230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Cyclosporine 3.1419224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Cyclosporine 9.7012639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.7020067830
MESH:D005756 Gastritis Acetaminophen 4.1216983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.3316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.7416417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.628708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4611294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2512621046 16120746 15340226
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.1917440010
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.498697196 16959395 15340226 16354765 18606429
MESH:D006930 Hyperalgesia Acetaminophen 2.9216870215
MESH:D006973 Hypertension Cyclosporine 5.2410903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2418850075 18670907
MESH:D007248 Infertility, Male vinclozolin 3.2116467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9812878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8815604871
MESH:D007674 Kidney Diseases Acetaminophen 6.2815629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 6.288314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 2.9712371664
MESH:D007984 Leydig Cell Tumor vinclozolin 5.1316417039
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Acetaminophen 1.6816610002 12587719 19784758 16611625 19460945 11587558 12969438 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5016871587 17185352
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8016984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2612151625
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.3817365036
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9319513568
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.2716966607 16166281 18303189
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.2316801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5319348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1018514411
MESH:D010146 Pain Acetaminophen 2.6216870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.2510923243
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4712371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.8411896295 11399792 11118676 11222880
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.8418220299 19015723 18042343
MESH:D011469 Prostatic Diseases vinclozolin 5.3318220299
MESH:D011472 Prostatitis vinclozolin 5.3318629315
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.1117365031 17975199 17322281 15814490
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:D013733 Testicular Diseases phenethyl isothiocyanate 5.3415864552
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D014581 Urticaria Acetaminophen 3.2810982225
MESH:D014605 Uveitis Cyclosporine 4.431336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
MESH:D014985 Xerophthalmia Cyclosporine 4.8817120751
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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