AutismKB 2.0

Annotation Detail for EYA1


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Basic Information Top
Gene Symbol:EYA1 ( BOP,BOR,MGC141875 )
Gene Full Name: eyes absent homolog 1 (Drosophila)
Band: 8q13.3
Quick LinksEntrez ID:2138; OMIM: 601653; Uniprot ID:EYA1_HUMAN; ENSEMBL ID: ENSG00000104313; HGNC ID: 3519
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1832Congenital abnormality
Desease Name
sleepiness
NEUROLOGICAL
Desease Name
Sleepiness
Desease Name
Otofaciocervical syndrome
Anterior segment anomalies and cataract
Branchiootorenal syndrome
Branchiootorenal syndrome with cataract
Branchiootic syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C029424 hydrazine hydrazine results in increased expression of EYA1 mRNAincreases expression 15282401
D009151 Mustard Gas Mustard Gas results in increased expression of EYA1 mRNAincreases expression 15674843
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of EYA1 mRNAaffects binding|increases activity|increases expression 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.6418653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.2216434500
MESH:D001249 Asthma Mustard Gas 2.8110378619
MESH:D001768 Blister Mustard Gas 5.9019167455
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.6319483382
MESH:D019280 Branchio-Oto-Renal Syndrome marker/mechanism 12834866
MESH:C537106 Branchiootorenal syndrome 1 marker/mechanism
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.9015286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.8417687719 10378619
MESH:C535349 Cayler cardiofacial syndrome marker/mechanism 15493068
MESH:D002779 Cholestasis pirinixic acid 3.1519176532
MESH:D000013 Congenital Abnormalities marker/mechanism 10471511
MESH:D019465 Craniofacial Abnormalities marker/mechanism 10471511
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5918249437
MESH:D004487 Edema Mustard Gas 8.5211428647 9260866 11402378 11428631
MESH:D004487 Edema pirinixic acid 8.5212083418
MESH:D004890 Erythema Mustard Gas 5.909357497
MESH:D005234 Fatty Liver pirinixic acid 3.2519236843 20131406
MESH:D006314 Hearing Loss, Conductive marker/mechanism 10471511
MESH:D006330 Heart Defects, Congenital marker/mechanism 15493068
MESH:D006333 Heart Failure pirinixic acid 2.7820558911
MESH:D006529 Hepatomegaly pirinixic acid 3.6419176532 16221962 19772884 18467677
MESH:D006943 Hyperglycemia pirinixic acid 3.6320558911
MESH:D007249 Inflammation Mustard Gas 2.9811428620 11402378 16001271 9357497 9260866 11428631 11428647 17524151 8975870
MESH:D007333 Insulin Resistance pirinixic acid 2.9016306350
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9415890375 16377806 20007298
MESH:D008171 Lung Diseases Mustard Gas 3.7318702808 18161513
MESH:D008175 Lung Neoplasms Mustard Gas 2.188781369 3148597
MESH:D009135 Muscular Diseases pirinixic acid 4.1616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2919151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2916411023
MESH:D009369 Neoplasms pirinixic acid 2.1217405874
MESH:D009503 Neutropenia Mustard Gas 4.5016761898 7688884
MESH:D009765 Obesity pirinixic acid 1.8920558911
OMIM:166780 OTOFACIOCERVICAL SYNDROME marker/mechanism
MESH:D011041 Poisoning Mustard Gas 4.3215727166
MESH:D011537 Pruritus Mustard Gas 4.8318058305
MESH:D011658 Pulmonary Fibrosis Mustard Gas 3.0617620002 17894541 17720292 10334151 17266442
MESH:D015427 Reperfusion Injury pirinixic acid 2.5619058328
MESH:D012871 Skin Diseases Mustard Gas 2.8015451306 16961503 12880345
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27931
  • No data
    Releated disease ID Related disease Name
    PA445689Sleep Disorders
    No data
    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