AutismKB 2.0

Annotation Detail for EMILIN3


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Basic Information Top
Gene Symbol:EMILIN3 ( C20orf130,DKFZp434A2410,EMILIN5,dJ620E11.4 )
Gene Full Name: elastin microfibril interfacer 3
Band: 20q12
Quick LinksEntrez ID:90187; OMIM: 608929; Uniprot ID:EMIL3_HUMAN; ENSEMBL ID: ENSG00000183798; HGNC ID: 16123
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
C014211 2,3,7,8-tetrachlorodibenzofuran 2,3,7,8-tetrachlorodibenzofuran affects the expression of EMILIN3 mRNAaffects expression 18343893
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of EMILIN3 mRNAincreases expression 18648102
D016572 Cyclosporine Cyclosporine results in decreased expression of EMILIN3 mRNAdecreases expression 20106945
D018038 Sodium Selenite Sodium Selenite results in decreased expression of EMILIN3 mRNAdecreases expression 18175754
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin affects the expression of EMILIN3 mRNAaffects expression 18343893
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of EMILIN3 mRNAincreases expression 15328365
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3815322242 11752688 14514962
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.933712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.631440618 11289319
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.777296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.817296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.367505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.3612371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.7519486331 9022650
MESH:D002779 Cholestasis Cyclosporine 8.7519486331
MESH:D019457 Chromosome Breakage Sodium Selenite 5.2415894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.228697196 15340226 16354765 15668235 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 20055451 10048152
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.2811906362 18759878 14531868 8156756 12868966 11298694 8970840 2524372
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.892952479 3621924
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.1016285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.717440962 18692083 16192314 18648102 6679447 18289764 1440618 6482804 8291058 11289319 9653073 9022650 9328219
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 6.7115131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.7120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7411000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5118230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.173581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Cyclosporine 3.2319224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.636705139
MESH:D005355 Fibrosis Cyclosporine 10.1412639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.1420067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.447505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital 2,3,7,8-tetrachlorodibenzofuran 7.5211294989
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.5210048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.956705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3716120746 12621046 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6616354765 8697196 16959395 15340226 18606429
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.4215034207
MESH:D006973 Hypertension Cyclosporine 5.3110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3118670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112878042 12200463
MESH:D007333 Insulin Resistance Sodium Selenite 3.4914714311
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.638074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Cyclosporine 2.528314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 8.306582329
MESH:D007680 Kidney Neoplasms Cyclosporine 8.3012371664
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4015034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8216984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.42598648 3712494 1399818 6587162
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4212151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.4614737004
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.583581430
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6118481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.136679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.774026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.633988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.977296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.086228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311118676 11222880 11896295 11399792
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3418760546
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.643692021
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1816192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.151399818 3712494 6587162 6582329 7505956
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.398074119
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
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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