AutismKB 2.0

Annotation Detail for EGLN2


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Basic Information Top
Gene Symbol:EGLN2 ( DKFZp434E026,EIT6,HIFPH1,HPH-3,PHD1 )
Gene Full Name: egl nine homolog 2 (C. elegans)
Band: 19q13.2
Quick LinksEntrez ID:112398; OMIM: 606424; Uniprot ID:EGLN2_HUMAN; ENSEMBL ID: ENSG00000171570; HGNC ID: 14660
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05211Renal cell carcinoma
hsa05200Pathways in cancer
No data
No data
Pathway IDPathway Name
P00030Hypoxia response via HIF activation
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of EGLN2 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of EGLN2 mRNAdecreases expression 20127859
C006780 bisphenol A bisphenol A results in increased expression of EGLN2 mRNAincreases expression 20678512
C018021 cobaltous chloride cobaltous chloride results in decreased expression of EGLN2 mRNAdecreases expression 15695372
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EGLN2 mRNAaffects cotreatment|increases expression 17942748
C006253 pirinixic acid pirinixic acid results in increased expression of EGLN2 mRNAincreases expression 18445702
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EGLN2 mRNAaffects cotreatment|increases expression 17942748
D014810 Vitamin E Vitamin E results in increased expression of EGLN2 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1814514962 11752688 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3818653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3520127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3514692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.786695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.0516434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.0516835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3819183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.5919483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.5912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001862 Bone Resorption bisphenol A 4.1011985600
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8317474063 20146248
MESH:D001943 Breast Neoplasms bisphenol A 1.8317123778
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8320435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.2416050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D002278 Carcinoma in Situ bisphenol A 5.3317123778
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1020419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918850075 18670907 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.3317333356 16105132 11677210 16919318 17110522 15861022 17681005
MESH:D002779 Cholestasis pirinixic acid 8.3319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1916354765 8697196 12621046 15340226 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5410048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5419769572
MESH:D017449 Dermatitis, Allergic Contact cobaltous chloride 4.3315059100 16823706 11298694
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:C538011 Eales disease Vitamin E 5.089068938
MESH:D004487 Edema pirinixic acid 7.3512083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.3512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2815322242 18230668 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2510568697 9294722
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0616530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.3615345470
MESH:D005234 Fatty Liver pirinixic acid 8.3619236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2520067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 11.7720471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 11.7711294989 10048152
MESH:D006330 Heart Defects, Congenital Vitamin E 11.7716080930
MESH:D006333 Heart Failure pirinixic acid 2.6720558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly pirinixic acid 9.3016221962 19772884 19176532 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.3012621046 16120746 15340226
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7716863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.3514716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.428697196 18606429 15340226 16354765 16959395
MESH:D006943 Hyperglycemia pirinixic acid 3.4120558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9612878042 12200463
MESH:D007251 Influenza, Human Vitamin E 4.5916624496
MESH:D007333 Insulin Resistance bisphenol A 7.8116393666
MESH:D007333 Insulin Resistance pirinixic acid 7.8116306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007674 Kidney Diseases Vitamin E 2.9312488133
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5315474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5312878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.5316169303
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.7720195826 21137059
MESH:D008113 Liver Neoplasms pirinixic acid 7.7715890375 20007298 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7716984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2412151625
MESH:D008171 Lung Diseases Vitamin E 3.3316863852
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.4917053015 6695378 20464547 20135361 18520028 20869020 18569708 18816296 20064080
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4919555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 3.4911062179
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3716381670
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2219151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1316411023
MESH:D009369 Neoplasms Benzo(a)pyrene 5.1711141357
MESH:D009369 Neoplasms pirinixic acid 5.1717405874
MESH:D009421 Nervous System Malformations bisphenol A 10.5411399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.5414600291
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010049 Ovarian Diseases bisphenol A 5.3311985600
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 10.6610548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.6611118676 11896295 11222880 11399792
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.4520887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.5217292933
MESH:D011471 Prostatic Neoplasms bisphenol A 2.5216740699
MESH:D011471 Prostatic Neoplasms Vitamin E 2.5215084515
MESH:D011537 Pruritus Ethinyl Estradiol 3.6516919318 15861022
MESH:D011629 Puberty, Precocious bisphenol A 5.1210548101
MESH:D015427 Reperfusion Injury pirinixic acid 2.4919058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012871 Skin Diseases Vitamin E 2.4918709164
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.8010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3216709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D020521 Stroke Vitamin E 3.7116517955
MESH:D019966 Substance-Related Disorders bisphenol A 4.3216045194 16684133
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
OMIM:188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO marker/mechanism 20418890
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2517053015
MESH:D014591 Uterine Diseases bisphenol A 5.3814652134
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
Pathway ID Pathway Name
KEGG:05200 Pathways in cancer
KEGG:05211 Renal cell carcinoma
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00126 - Vitamin C Antioxidants;Essential Vitamins;Free Radical Scavengers;Vitamins (Vitamin C);Vitamins
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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