AutismKB 2.0

Annotation Detail for EFS


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EFS ( CAS3,CASS3,EFS1,EFS2,HEFS,SIN )
Gene Full Name: embryonal Fyn-associated substrate
Band: 14q11.2
Quick LinksEntrez ID:10278; OMIM: 609906; Uniprot ID:EFS_HUMAN; ENSEMBL ID: ENSG00000100842; HGNC ID: 16898
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
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of EFS mRNAincreases expression 16788091
D000643 Ammonium Chloride Ammonium Chloride affects the expression of EFS mRNAaffects expression 16483693
D001104 Arbutin Arbutin results in decreased expression of EFS mRNAdecreases expression 17103032
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased expression of EFS mRNAincreases expression 15336504
D004958 Estradiol [Progesterone co-treated with Estradiol] results in decreased expression of EFS mRNAaffects cotreatment|decreases expression 17404688
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of EFS mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of EFS mRNAdecreases expression 17557909
D011374 Progesterone [Progesterone co-treated with Estradiol] results in decreased expression of EFS mRNAaffects cotreatment|decreases expression 17404688
D014635 Valproic Acid Valproic Acid results in decreased expression of EFS mRNAdecreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.828875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1719490988
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D000230 Adenocarcinoma Estradiol 4.3911473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3914692618
MESH:D000550 Amblyopia Valproic Acid 5.6117688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.7617497229
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001321 Autistic Disorder Valproic Acid 1.9917507914 18985861 18316065 15238991 17688650 20603192 19460635 18558336 17157402 16609825 18396377 19232924 18775368 18940202 18177632
MESH:D001714 Bipolar Disorder Valproic Acid 3.1820046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.548888407
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.7117868700
MESH:D001930 Brain Injuries Progesterone 4.5615665606 15380490 15845082
MESH:D001943 Breast Neoplasms Estradiol 2.1918497071 16675129 14630087 17261762 19861407 17289903 17018787 12948864
MESH:D001943 Breast Neoplasms Progesterone 2.1915562024 17614352 16175315
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.8016111702
MESH:D006528 Carcinoma, Hepatocellular Estradiol 1.7816924424
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.9318566989
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7820734317
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0516105132 17681005 16919318 11677210 15861022 17333356 17110522
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9017688650 8888407 16575769
MESH:D003928 Diabetic Nephropathies Estradiol 3.6319279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.8017187935
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.231733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.311851702
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.9912538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 9.9917692515
MESH:D016889 Endometrial Neoplasms Estradiol 3.1319148513 18566989 11473722
MESH:D004715 Endometriosis Progesterone 3.9916134523
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.463659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.2916628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0418234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.807562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.607750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.403659116
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.5615345470
MESH:D005234 Fatty Liver Valproic Acid 8.5614986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.2616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.418888407 18558336
MESH:D006558 Herpes Genitalis Estradiol 5.4115709030
MESH:D019584 Hot Flashes Estradiol 4.1317088409
MESH:D006849 Hydrocephalus Valproic Acid 5.2017688650
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216569931 16945680
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.7115869954
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007249 Inflammation Progesterone 2.7015869954
MESH:D007333 Insulin Resistance Estradiol 3.1116393666 16627594
MESH:D007674 Kidney Diseases Estradiol 2.7115618244
MESH:D007680 Kidney Neoplasms Estradiol 3.1815610895
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1817596541 16294345
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 1.6814659978 14716833
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.6417228818
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.5511408345 11807958 17203775 16891317
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 6.5517203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.8619453300
MESH:D008881 Migraine Disorders Valproic Acid 3.3618765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.278888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2817596541
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.4616810080
MESH:D009389 Neovascularization, Pathologic Estradiol 4.0717289903
MESH:D009421 Nervous System Malformations Estradiol 3.9311399458 16427766
MESH:D009436 Neural Tube Defects Valproic Acid 3.278888407 16359493
MESH:D010051 Ovarian Neoplasms Estradiol 5.0819401270
MESH:D010051 Ovarian Neoplasms Progesterone 5.0816525653 17393432
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.1720603192
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.1320887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0416740699
MESH:D011537 Pruritus Ethinyl Estradiol 3.6515861022 16919318
MESH:D019310 Pseudolymphoma Valproic Acid 4.9212752131 11422049
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.4419155313
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9218045962
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures Valproic Acid 2.893137016 17978042 14763951 16876388 1511512 11738929 11044598 15475178
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.798532709
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3216709447
MESH:D013119 Spinal Cord Injuries Progesterone 4.6215862959 16503802
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9619490988
MESH:D013226 Status Epilepticus Valproic Acid 4.9212833885
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013978 Tibial Fractures Estradiol 5.0619048282
MESH:D014178 Translocation, Genetic Valproic Acid 5.6117262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.863119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.958888407
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7814671159 15869587
No data
Pharmacogenomics Knowledge Base Top
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved