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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4583
    • SNVs : 3411
    • InDels : 1172
    • Last Update : 05/11/2017

    Detailed information for ADAMTS18






    Basic information
    Official symbolADAMTS18
    Official full nameADAM metallopeptidase with thrombospondin type 1 motif, 18
    Location16q23
    Gene typeprotein-coding
    SynonymsADAMTS21|KNO2
    Quick linksEntrez ID:170692; HGNC:17110; MIM:607512; Ensembl:ENSG00000140873; HPRD:06333; Vega:OTTHUMG00000137619
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005578proteinaceous extracellular matrix360143.933.574.22e-050.0002
    GO:0031012extracellular matrix426154.653.236.94e-050.0004
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr167731502477470011608454Knobloch syndrome 2360751216q23.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr167731502477470011170692Adamts18MGI:2442600MP:0005389reproductive system phenotype
    Mutation spectrum

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    Gene-disease network

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