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    Top 5 diseases

    Data summary

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

    Detailed information for PDZD7






    Basic information
    Official symbolPDZD7
    Official full namePDZ domain containing 7
    Location10q24.31
    Gene typeprotein-coding
    SynonymsPDZK7
    Quick linksEntrez ID:79955; HGNC:26257; MIM:612971; Ensembl:ENSG00000186862; HPRD:15114; Vega:OTTHUMG00000018916
    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:0005515protein binding733710281.611.250.00110.0149
    GO:0005929cilium239552.6121.102.59e-585.08e-56
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    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
    chr10102776088102791914605472"Usher syndrome, type IIC, GPR98/PDZD7 digenic"361297110q24.31
    chr10102776088102791914276901"{Retinal disease in Usher syndrome type IIA, modifier of}"361297110q24.31
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr1010277608810279191479955Pdzd7MGI:3608325--
    Mutation spectrum

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    Gene-disease network

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