AutismKB 2.0

Annotation Detail for EMILIN1


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Basic Information Top
Gene Symbol:EMILIN1 ( DKFZp586M121,EMI,EMILIN,gp115 )
Gene Full Name: elastin microfibril interfacer 1
Band: 2p23.3
Quick LinksEntrez ID:11117; OMIM: 130660; Uniprot ID:EMIL1_HUMAN; ENSEMBL ID: ENSG00000138080; HGNC ID: 19880
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2087Bacterial infection
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of EMILIN1 mRNAaffects expression 21346803
D019324 beta-Naphthoflavone beta-Naphthoflavone results in increased expression of EMILIN1 mRNAincreases expression 19737606
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EMILIN1 mRNAaffects cotreatment|increases expression 17942748
D012643 Selenium Selenium results in increased expression of EMILIN1 mRNAincreases expression 19244175
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EMILIN1 mRNAaffects cotreatment|increases expression 17942748
D014810 Vitamin E Vitamin E results in increased expression of EMILIN1 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3114514962 15322242 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D000236 Adenoma beta-Naphthoflavone 3.5019389873
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.3516050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 1.7816705839
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.986135515
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1017333356 17681005 15861022 16105132 11677210 17110522 16919318
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2115340226 16354765 12621046 8697196 15668235
MESH:D003092 Colitis Selenium 4.2017936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5520055451 10048152 15322242
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5519769572
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.4418551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.6518551238 21346803
MESH:D056486 Drug-Induced Liver Injury Selenium 6.6515131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.6520420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:C538011 Eales disease Vitamin E 5.229068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4215322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3310568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.1415345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.0611294989 10048152
MESH:D006330 Heart Defects, Congenital Vitamin E 7.0616080930
MESH:D006333 Heart Failure Selenium 3.2517162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3112621046 16120746 15340226
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7916863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.4914716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5715340226 16959395 16354765 8697196 18606429
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912200463 12878042
MESH:D007251 Influenza, Human Selenium 12.7616624496
MESH:D007251 Influenza, Human Vitamin E 12.7616624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007674 Kidney Diseases Vitamin E 2.9612488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.2116518626
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.2416705839
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.4212878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.4216169303
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 8.037678174
MESH:D008113 Liver Neoplasms beta-Naphthoflavone 8.0319389873 21295105
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 8.0316984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.932876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental beta-Naphthoflavone 10.9318164116
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.9312151625
MESH:D008171 Lung Diseases Vitamin E 3.3716863852
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3819555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 2.3811062179
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9515318939
MESH:D008654 Mesothelioma Selenium 2.8915107826
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.327678174 18551238
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7416049721
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D010954 Plasmacytoma Selenium 5.4115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511399792 11118676 11222880 11896295
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2515084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.7715861022 16919318
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7418551238
MESH:D012871 Skin Diseases Vitamin E 2.5018709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.4616709447
MESH:D020521 Stroke Vitamin E 3.7716517955
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3916049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.7810091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
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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