AutismKB 2.0

Annotation Detail for KEL


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Basic Information Top
Gene Symbol:KEL ( CD238,ECE3 )
Gene Full Name: Kell blood group, metallo-endopeptidase
Band: 7q34
Quick LinksEntrez ID:3792; OMIM: 110900; Uniprot ID:KELL_HUMAN; ENSEMBL ID: ENSG00000197993; HGNC ID: 6308
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
D000082 Acetaminophen Acetaminophen affects the expression of KEL mRNAaffects expression 17562736
D010269 Paraquat Paraquat results in increased expression of KEL mRNAincreases expression 15458575
C008890 phosphoramidon KEL protein alternative form binds to and affects the metabolism of phosphoramidonaffects binding|affects metabolic processing 15769748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of KEL mRNAincreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4711752688 15322242 14514962
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.0116835633
MESH:D000382 Agricultural Workers' Diseases Paraquat 4.3911874814
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5618850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.248697196 15668235 15340226 12621046 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.8617522070 10663392 11287661 10774834 11421492 16485898 19739265 14550746 14725611 12153990 16781746 18713872 10915739 2444490 11529661 11743745 12705907 12594235 12958197 16393943 15968718 19420014 17906064 11739529 19416960 17562736 18071297 19164858 11461765 15619225 16081117 19085960 11834606 12392966 16109766 19923254 14986274 16177239 16227642 19370779 12540782
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8620420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6216714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4210568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D005911 Gliosis Paraquat 5.8911124998
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5110048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.4515340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7715340226 18606429 8697196 16959395 16354765
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218670907 18850075
MESH:D007248 Infertility, Male Paraquat 3.504850670
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Acetaminophen 1.7019460945 12587719 19784758 11587558 19014921 16611625 12969438 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6317185352 16871587
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8316984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3312151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D009410 Nerve Degeneration Paraquat 4.0216893418
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D010300 Parkinson Disease Paraquat 2.9315451049 16510128 12911755 11181820 11445065 16140633 11124998 15824117
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.9916190885
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D011014 Pneumonia Paraquat 5.0812504350
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211118676 11222880 11896295 11399792
MESH:D011658 Pulmonary Fibrosis Paraquat 3.0317997886 16324872
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 4.3711700416
MESH:D012135 Respiratory Sounds Paraquat 4.6211874814
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012162 Retinal Degeneration Paraquat 4.1616458197
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013272 Stomach Diseases phosphoramidon 6.6216280098
MESH:D013276 Stomach Ulcer phosphoramidon 5.5711145282
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D014581 Urticaria Acetaminophen 3.4410982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA30087
    • No data
    Releated disease ID Related disease Name
    PA447199Bipolar Disorder
    PA447216Schizophrenia
    No data
    Drug Bank Top

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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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