AutismKB 2.0

Annotation Detail for EDEM1


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Basic Information Top
Gene Symbol:EDEM1 ( EDEM,FLJ51559,FLJ51560,KIAA0212 )
Gene Full Name: ER degradation enhancer, mannosidase alpha-like 1
Band: 3p26.1
Quick LinksEntrez ID:9695; OMIM: 607673; Uniprot ID:EDEM1_HUMAN; ENSEMBL ID: ENSG00000134109; HGNC ID: 18967
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04141Protein processing in endoplasmic reticulum
Pathway IDPathway Name
Diabetes pathways
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of EDEM1 mRNAaffects expression 17562736
D016572 Cyclosporine Cyclosporine results in increased expression of EDEM1 mRNAincreases expression 20106945
D004041 Dietary Fats Dietary Fats results in decreased expression of EDEM1 mRNAdecreases expression 18042831
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of EDEM1 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of EDEM1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EDEM1 mRNAaffects cotreatment|increases expression 17942748
C041786 palm oil palm oil results in decreased expression of EDEM1 mRNAdecreases expression 18042831
C031280 pyrazole pyrazole results in increased expression of EDEM1 mRNAincreases expression 17945193
D013629 Tamoxifen Tamoxifen affects the expression of EDEM1 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin binds to AHR protein] which results in decreased expression of EDEM1 mRNAaffects binding|decreases expression 16214954
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EDEM1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9214745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1815322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D001161 Arteriosclerosis Dietary Fats 10.9515238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 10.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms Dietary Fats 1.8320435547
MESH:D001943 Breast Neoplasms Tamoxifen 1.8316818667 17049068 18997820 20005174 20065188 19288272 18821012 21138602 19066611 19487384 18629630 18425577 18855134 20859285 19244106 19200415 18815881 19103187 17893378 16273361 19142967 17242785 19189210 20390343 19189212 19289846 19084267 17261762 11161223 17440819 16202921 21152245 15668708 19059307 19011961 19115204 19155303 16873071 18351453 18984771 15565566 19410462 19221464 20544844 20135344
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8320435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8119066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.943084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 2.9416924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8417572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.7110977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.6812371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Cyclosporine 8.3719486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.3716105132 11677210 17681005 17333356 16919318 17110522 15861022
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1916354765 15668235 12621046 15340226 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2717141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6719031437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6919279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.6119923254 14986274 11743745 16227642 14550746 19416960 12153990 19739265 11739529 11287661 2444490 11461765 10774834 10915739 10663392 16081117 17562736 11834606 16485898 16177239 16393943 19085960 12392966 12958197 16781746 16109766 12540782 18071297 11529661 17906064 18713872 11421492 14725611 15968718 19370779 15619225 12705907 17522070 19164858 12594235 19420014
MESH:D056486 Drug-Induced Liver Injury pyrazole 6.6112499123
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.6120420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D050171 Dyslipidemias Dietary Fats 3.6218367378
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2815322242 18230668 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.9012538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.9019031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1917893378 20544844 19155303 16202921
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Cyclosporine 20.8719224547
MESH:D005234 Fatty Liver Dietary Fats 20.8718296743 19551842 17967931 19004024
MESH:D005234 Fatty Liver Ethinyl Estradiol 20.8715345470
MESH:D005234 Fatty Liver Tamoxifen 20.8719224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3716709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5219069698
MESH:D005355 Fibrosis Cyclosporine 16.5912639820 12168785
MESH:D005355 Fibrosis Dietary Fats 16.5918296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 16.5920067830
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.568708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4411294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2016120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.428697196 18606429 15340226 16959395 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.8321332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.8721332399
MESH:D006973 Hypertension Cyclosporine 5.2110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2118670907 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 Dietary Fats 8.9420412841
MESH:D007249 Inflammation Tamoxifen 8.9419457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.9412200463 12878042
MESH:D007333 Insulin Resistance Dietary Fats 3.2518457598 11836018
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8215604871
MESH:D007674 Kidney Diseases Acetaminophen 6.2215629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 6.2218776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 7.9812371664
MESH:D007680 Kidney Neoplasms Tamoxifen 7.9818625569
MESH:D008064 Lipidoses Tamoxifen 3.3217567588 15342952
MESH:D008103 Liver Cirrhosis Dietary Fats 2.9918296743
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3418564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3412878042
MESH:D008107 Liver Diseases Acetaminophen 1.6719784758 16610002 19014921 16611625 12969438 12587719 11587558 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4617185352 16871587
MESH:D008113 Liver Neoplasms Tamoxifen 4.6516684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6516984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2412151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.3018625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3019555203 11884234
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7614580682 16827153 11731420 19196723 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 4.9219453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5215990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1616801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6319393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5819410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3819189210 19196722 19200415
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5019348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0718514411
MESH:D009765 Obesity Dietary Fats 2.3311836018 19632207 18457598 20132043 20518802 21332399 18674790 17217161 16723640
MESH:D010146 Pain Acetaminophen 2.5916870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4412371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311118676 11896295 11222880 11399792
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1115067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.6515861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.8516709447
MESH:D013088 Spermatocele Tamoxifen 12.8516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.3819457130
MESH:D013733 Testicular Diseases pyrazole 5.156499806
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.4316712894 17572228 8653321
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D014605 Uveitis Cyclosporine 4.361336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
MESH:D015430 Weight Gain Dietary Fats 3.9516723640
MESH:D014985 Xerophthalmia Cyclosporine 4.8217120751
Pathway ID Pathway Name
REACT:15380 Diabetes pathways
REACT:17015 Metabolism of proteins
KEGG:04141 Protein processing in endoplasmic reticulum
Pharmacogenomics Knowledge Base Top
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  (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