AutismKB 2.0

Annotation Detail for ESCO2


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Basic Information Top
Gene Symbol:ESCO2 ( 2410004I17Rik,EFO2,RBS )
Gene Full Name: establishment of cohesion 1 homolog 2 (S. cerevisiae)
Band: 8p21.1
Quick LinksEntrez ID:157570; OMIM: 609353; Uniprot ID:ESCO2_HUMAN; ENSEMBL ID: ENSG00000171320; HGNC ID: 27230
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Roberts syndrome
SC phocomelia syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of ESCO2 mRNAdecreases expression 20064835
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of ESCO2 mRNAincreases expression 20713471
C018021 cobaltous chloride cobaltous chloride affects the expression of ESCO2 mRNAaffects expression 20105288
D016572 Cyclosporine Cyclosporine results in decreased expression of ESCO2 mRNAdecreases expression 20106945
D008748 Methylcholanthrene Methylcholanthrene results in increased expression of ESCO2 mRNAincreases expression 20713471
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of ESCO2 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital affects the expression of ESCO2 mRNAaffects expression 19136022
D010634 Phenobarbital Phenobarbital results in increased expression of ESCO2 mRNAincreases expression 19482888
C006253 pirinixic acid pirinixic acid affects the expression of ESCO2 mRNAaffects expression 19136022
D014212 Tretinoin Tretinoin results in decreased expression of ESCO2 mRNAdecreases expression 18230668
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.836195326
MESH:D055371 Acute Lung Injury pirinixic acid 3.4218653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0420127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 7.366695378
MESH:D000236 Adenoma Methylcholanthrene 7.366695378 10545420
MESH:D018248 Adenoma, Liver Cell Phenobarbital 11.4817620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.4816434500
MESH:D000505 Alopecia Tretinoin 3.8415955085
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4319183758
MESH:D001169 Arthritis, Experimental Tretinoin 3.2316412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3116292516
MESH:D001249 Asthma Tretinoin 2.4116456186
MESH:D050197 Atherosclerosis Methylcholanthrene 3.6011922910
MESH:D001471 Barrett Esophagus Tretinoin 4.7316935849
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.9319483382
MESH:D001778 Blood Coagulation Disorders Tretinoin 9.9316197459 16206674
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9620146248 17474063
MESH:D001943 Breast Neoplasms Methylcholanthrene 1.9617474063
MESH:D001943 Breast Neoplasms Tretinoin 1.9616873071 16443354 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.9916813970
MESH:D002277 Carcinoma Methylcholanthrene 4.1910545420
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.6016168501
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 3.176705139 17173139 20007298 1701930 20935162
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 3.171917145
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.7920419170
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.7916051514 16096774
MESH:D002386 Cataract Tretinoin 3.2417460283
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.4612371664
MESH:D002471 Cell Transformation, Neoplastic Methylcholanthrene 7.4616192471
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.614080065
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.9916129372
MESH:D002779 Cholestasis Cyclosporine 8.4419486331
MESH:D002779 Cholestasis pirinixic acid 8.4419176532
MESH:D002822 Choriocarcinoma Tretinoin 5.6016461808
MESH:D002972 Cleft Palate Tretinoin 2.769407595
MESH:D003092 Colitis Tretinoin 4.0617035595
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.839224671 17551590 9211117 16925845 8800419 10589399 9125849 9664655 9142499 14991402
MESH:D017449 Dermatitis, Allergic Contact cobaltous chloride 4.3816823706 15059100 11298694
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5318249437
MESH:D004421 Dystonia Phenobarbital 4.311851702
MESH:D004487 Edema pirinixic acid 2.7612083418
MESH:D004489 Edema, Cardiac Tretinoin 4.9118230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.2816569247
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.473659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.313922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0120417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.796401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.617750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.413659116
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0616530937
MESH:D005124 Eye Abnormalities Tretinoin 3.7816938888 9664655
MESH:D005234 Fatty Liver Cyclosporine 8.5119224547
MESH:D005234 Fatty Liver pirinixic acid 8.5120131406 19236843
MESH:D005354 Fibrosarcoma Methylcholanthrene 5.3410962813 14633661
MESH:D005355 Fibrosis Cyclosporine 9.9112168785 12639820
MESH:D005355 Fibrosis Tretinoin 9.9117994277
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.628708960
MESH:D005909 Glioblastoma Tretinoin 3.1717312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3616096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.6016084493
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 7.0920471113
MESH:D006330 Heart Defects, Congenital Tretinoin 7.099664655 14991402
MESH:D006333 Heart Failure pirinixic acid 2.6920558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8215720958
MESH:D006529 Hepatomegaly Phenobarbital 9.7016109766
MESH:D006529 Hepatomegaly pirinixic acid 9.7019772884 16221962 18467677 19176532
MESH:D006930 Hyperalgesia Tretinoin 3.4316870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.9316778211
MESH:D006943 Hyperglycemia pirinixic acid 3.4520558911
MESH:D006973 Hypertension Cyclosporine 2.1810903974
MESH:D007333 Insulin Resistance pirinixic acid 2.8016306350
MESH:D007410 Intestinal Diseases Tretinoin 4.1217994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.1817551590 15992940
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8815604871
MESH:D007674 Kidney Diseases Cyclosporine 2.488314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 2.9712371664
MESH:D007938 Leukemia Tretinoin 2.8917143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.9816482212 16932348 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1119850784 16294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3217107899 12679006 15748426 16788101 17339181 17294898 16766008 17506722 19029980 16823087 19225113 19075265 17301526 17649720 16331271 17712046 16140955 19035177 16935935 17361223 17217047 16891316 17368321 19642359 9834237
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.509224671
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0321047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4115474484
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 2.4118397230 16248980
MESH:D008107 Liver Diseases Phenobarbital 2.2219363144
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.9120195826 21137059
MESH:D008113 Liver Neoplasms Phenobarbital 7.9119812893 15975961 19482888 21047994 8742319 19073162
MESH:D008113 Liver Neoplasms pirinixic acid 7.9120007298 15890375 16377806
MESH:D008114 Liver Neoplasms, Experimental Methylcholanthrene 6.76598648 1399818
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.766150874 1399818 18308698 17172636 2563599
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.6818816296 6695378 20464547 20135361 20064080 17053015 20869020 18520028 18569708
MESH:D008175 Lung Neoplasms Methylcholanthrene 2.6820512841 21163286 10545420 16337739 6695378 15390079 17909032 7750092 11893704 1399818 9230183 16271038 20970405
MESH:D008527 Medulloblastoma Tretinoin 2.8717453147
MESH:D008545 Melanoma Tretinoin 1.9716752155
MESH:D008591 Meningomyelocele Tretinoin 4.7816940565
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.2316801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4016381670
MESH:D009135 Muscular Diseases pirinixic acid 3.8616239165
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2217596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2419151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1616411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.8717484760
MESH:D009369 Neoplasms Benzo(a)pyrene 8.9111141357
MESH:D009369 Neoplasms pirinixic acid 8.9117405874
MESH:D009369 Neoplasms Tretinoin 8.9116594593 16946489
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5319348381 18481113
MESH:D009421 Nervous System Malformations Tretinoin 4.119125849
MESH:D009436 Neural Tube Defects Tretinoin 3.229142499
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010018 Osteomalacia Phenobarbital 4.7617016548
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4116936753
MESH:D010146 Pain Tretinoin 3.1316870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 5.5516965848
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.5515976015
MESH:D011230 Precancerous Conditions Cyclosporine 9.8112371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.812563599
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9317292933
MESH:D011507 Proteinuria Tretinoin 3.9116636307
MESH:D019310 Pseudolymphoma Phenobarbital 4.9412752131
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D011625 Pterygium Tretinoin 5.1916723453
MESH:D015427 Reperfusion Injury pirinixic acid 2.5019058328
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.4016283617 16116481
MESH:C535687 Roberts Syndrome marker/mechanism 20101700 18186147 16380922
OMIM:269000 SC PHOCOMELIA SYNDROME marker/mechanism 16380922
MESH:D012640 Seizures Phenobarbital 2.874039156 16876388 3137016 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 5.226407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.0619755658 10029692
MESH:D012878 Skin Neoplasms Tretinoin 6.0616467112
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4020155912 2093021
MESH:D013274 Stomach Neoplasms Tretinoin 2.4017261132
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.901399818
MESH:D013964 Thyroid Neoplasms Tretinoin 7.9017045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 4.0516051514
MESH:D014376 Tuberculosis Tretinoin 3.3816040207
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2617053015
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9416129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.0516752155
MESH:D014605 Uveitis Cyclosporine 4.431336536
MESH:D014820 Vitiligo Tretinoin 4.3916761959
MESH:D009396 Wilms Tumor Tretinoin 4.2216287080
MESH:D014985 Xerophthalmia Cyclosporine 4.8817120751
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Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134891970
    • No data
    Releated disease ID Related disease Name
    PA142189041Roberts-SC phocomelia syndrome
    No data
    Drug Bank Top

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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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