AutismKB 2.0

Annotation Detail for EDEM3


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Basic Information Top
Gene Symbol:EDEM3 ( C1orf22 )
Gene Full Name: ER degradation enhancer, mannosidase alpha-like 3
Band: 1q25.3
Quick LinksEntrez ID:80267; OMIM: 610214; Uniprot ID:EDEM3_HUMAN; ENSEMBL ID: ENSG00000116406; HGNC ID: 16787
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04141Protein processing in endoplasmic reticulum
No data
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016572 Cyclosporine Cyclosporine results in increased expression of EDEM3 mRNAincreases expression 20106945
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of EDEM3 mRNAincreases expression 19465110
D014810 Vitamin E Vitamin E results in decreased expression of EDEM3 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5915322242 14514962 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.1216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0215746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.5816050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5818670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8212371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002779 Cholestasis Cyclosporine 3.2419486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2515340226 12621046 8697196 15668235 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5815322242 10048152 20055451
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5819769572
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:C538011 Eales disease Vitamin E 5.579068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7715322242 18230668 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.479294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005234 Fatty Liver Cyclosporine 3.3419224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D005355 Fibrosis Cyclosporine 10.7512168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.7520067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.2411294989 10048152
MESH:D006330 Heart Defects, Congenital Vitamin E 7.2416080930
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.5415340226 16120746 12621046
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8216490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.8414716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.9116959395 8697196 16354765 15340226 18606429
MESH:D006973 Hypertension Cyclosporine 5.3910903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3918670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0412878042 12200463
MESH:D007251 Influenza, Human Vitamin E 5.0816624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Cyclosporine 6.788314463 18776723 10903974
MESH:D007674 Kidney Diseases Vitamin E 6.7812488133
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1212371664
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.4412878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.4416169303
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3512151625
MESH:D008171 Lung Diseases Vitamin E 3.4516863852
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.4011884234 19555203
MESH:D008175 Lung Neoplasms Vitamin E 2.4011062179
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.6516801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7019348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.6412371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311896295 11399792 11222880 11118676
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2415084515
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012871 Skin Diseases Vitamin E 2.5218709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2116192470
MESH:D020521 Stroke Vitamin E 3.8816517955
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
Pathway ID Pathway Name
REACT:17015 Metabolism of proteins
KEGG:04141 Protein processing in endoplasmic reticulum
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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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