AutismKB 2.0

Annotation Detail for KDELC1


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Basic Information Top
Gene Symbol:KDELC1 ( EP58,KDEL1,MGC5302 )
Gene Full Name: KDEL (Lys-Asp-Glu-Leu) containing 1
Band: 13q33.1
Quick LinksEntrez ID:79070; OMIM: 611613; Uniprot ID:KDEL1_HUMAN; ENSEMBL ID: ENSG00000134901; HGNC ID: 19350
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
D001104 Arbutin Arbutin results in increased expression of KDELC1 mRNAincreases expression 17103032
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of KDELC1 mRNAdecreases expression 15336504
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of KDELC1 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of KDELC1 mRNAaffects cotreatment|decreases expression 17942748
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of KDELC1 mRNAdecreases expression 17557909
D007501 Iron Iron deficiency results in increased expression of KDELC1 mRNAincreases expression 20368581
C011890 kojic acid kojic acid results in increased expression of KDELC1 mRNAincreases expression 16595896
D013629 Tamoxifen Tamoxifen affects the expression of KDELC1 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of KDELC1 mRNAdecreases expression 20106945
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of KDELC1 mRNAaffects cotreatment|decreases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9914745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2415322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D019896 alpha 1-Antitrypsin Deficiency Iron 6.0516640825
MESH:D000544 Alzheimer Disease Iron 3.0516640825 16563566
MESH:D000740 Anemia Iron 9.8216566752 16434484
MESH:D000740 Anemia Tetrachlorodibenzodioxin 9.8211748828
MESH:D018798 Anemia, Iron-Deficiency Iron 4.9117163184 17147795 16569441 17375513 17162259
MESH:D000756 Anemia, Sideroblastic Iron 5.0916910769
MESH:D001145 Arrhythmias, Cardiac Iron 4.6316604332
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8215885639
MESH:D001260 Ataxia Telangiectasia Iron 5.8515336622
MESH:D050197 Atherosclerosis Iron 3.8616632123 16640825
MESH:D001321 Autistic Disorder Iron 2.7717352947
MESH:D001424 Bacterial Infections Iron 5.5916640825
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9319059307 19011961 17440819 18629630 21138602 17893378 16818667 18815881 19244106 20544844 19487384 15668708 19066611 20135344 17049068 19084267 20065188 19221464 20005174 16202921 18821012 18855134 18997820 21152245 18425577 11161223 18351453 19115204 19410462 19155303 18984771 19200415 19103187 19189212 19288272 19189210 16273361 15565566 19289846 19142967 17261762 20859285 20390343 16873071 17242785
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9320435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8719066611
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 1.8516924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8817572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018850075 18670907 16120746
MESH:D009202 Cardiomyopathies Iron 4.2116640825
MESH:D002311 Cardiomyopathy, Dilated Iron 3.5416604332
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0717681005 11677210 16919318 17333356 16105132 17110522 15861022
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2015340226 15668235 8697196 12621046 16354765
MESH:D003110 Colonic Neoplasms Iron 2.9316640825
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7219031437
MESH:D003920 Diabetes Mellitus Iron 4.7016604332 16640825
MESH:D003922 Diabetes Mellitus, Type 1 Iron 3.4216506275
MESH:D003924 Diabetes Mellitus, Type 2 Iron 4.7416506275
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.7417107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7219279558
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3518230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.0612538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.0619031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2117893378 16202921 19155303 20544844
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.9215345470
MESH:D005234 Fatty Liver Iron 14.9216640825
MESH:D005234 Fatty Liver Tamoxifen 14.9219224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3916709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5819069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D005621 Friedreich Ataxia Iron 5.7916604332 16640825
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4611294989 10048152
MESH:D006432 Hemochromatosis Iron 4.6816640825 17236123 16574947 17053826 16604332 17255318
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006486 Hemosiderosis Iron 5.6616604332
MESH:D006525 Hepatitis, Viral, Human Iron 5.9116640825
MESH:D006527 Hepatolenticular Degeneration Iron 5.3017182432
MESH:D006529 Hepatomegaly Iron 9.9716890145
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.9716120746 15340226 12621046
MESH:D015658 HIV Infections Iron 3.8016597321
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.498697196 16959395 15340226 16354765 18606429
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918850075 18670907
MESH:D007006 Hypogonadism Iron 4.5916640825
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716945680 16569931
MESH:D007037 Hypothyroidism Iron 5.4416640825
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6617937319
MESH:D007249 Inflammation Tamoxifen 5.3219457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3212878042 12200463
MESH:D019189 Iron Metabolism Disorders Iron 5.3417163184
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007680 Kidney Neoplasms Tamoxifen 3.2718625569
MESH:D020961 Lewy Body Disease Iron 5.7916563566
MESH:D008064 Lipidoses Tamoxifen 3.3517567588 15342952
MESH:D008103 Liver Cirrhosis Iron 3.8616640825
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3518564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3512878042
MESH:D008108 Liver Diseases, Alcoholic Iron 5.3616737972 17207112
MESH:D008113 Liver Neoplasms Iron 8.0420302851 16640825
MESH:D008113 Liver Neoplasms Tamoxifen 8.0416684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 8.0416984957
MESH:D008114 Liver Neoplasms, Experimental kojic acid 6.5618544905
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.5612151625
MESH:D008175 Lung Neoplasms Iron 3.6316640825
MESH:D008175 Lung Neoplasms Tamoxifen 3.6318625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.6319555203 11884234
MESH:D008268 Macular Degeneration Iron 4.1116640825
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1519428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7914580682 19196723 11731420 16827153 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 4.9919453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5815990972
MESH:D020528 Multiple Sclerosis, Chronic Progressive Iron 6.1217086897
MESH:D009181 Mycoses Iron 5.9116640825
MESH:D017202 Myocardial Ischemia Iron 9.9216604332
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 9.9212213967
MESH:D015428 Myocardial Reperfusion Injury Iron 4.4816604332
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6419393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5919410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.4419196722 19189210 19200415
MESH:D009404 Nephrotic Syndrome Iron 4.7617178036
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D019636 Neurodegenerative Diseases Iron 4.4817296847 16604332
MESH:D010003 Osteoarthritis Iron 4.1216640825
MESH:D010024 Osteoporosis Iron 4.0116648989 16640825
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010212 Papilloma Iron 4.8412065085
MESH:D020447 Parasomnias Iron 6.4617352947
MESH:D010300 Parkinson Disease Iron 3.4016563566 16640825
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D010900 Pituitary Diseases Iron 6.1216604332
MESH:D011041 Poisoning Iron 4.5916604332
MESH:D017119 Porphyria Cutanea Tarda Iron 12.1416640825
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 12.1418163543
MESH:D011225 Pre-Eclampsia Iron 4.6316640825
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911118676 11399792 11896295 11222880
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1015067354
MESH:D011528 Protozoan Infections Iron 6.4616640825
MESH:D011537 Pruritus Ethinyl Estradiol 3.7116919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012148 Restless Legs Syndrome Iron 4.7516930377
MESH:D012878 Skin Neoplasms Iron 10.2112065085
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 10.218532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 10.2116192470
MESH:D013088 Spermatocele Ethinyl Estradiol 13.0916709447
MESH:D013088 Spermatocele Tamoxifen 13.0916709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.4319457130
MESH:D013398 Sudden Infant Death Iron 5.8516640825
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D014376 Tuberculosis Iron 4.2416597321
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.4417572228 16712894 8653321
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8215869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
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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