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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4571
    • SNVs : 3402
    • InDels : 1169
    • Last Update : 26/10/2017

    Detailed information for ZNF423






    Basic information
    Official symbolZNF423
    Official full namezinc finger protein 423
    Location16q12
    Gene typeprotein-coding
    SynonymsEbfaz|JBTS19|NPHP14|OAZ|Roaz|ZFP423|Zfp104
    Quick linksEntrez ID:23090; HGNC:16762; MIM:604557; Ensembl:ENSG00000102935; HPRD:05189; Vega:OTTHUMG00000173491
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    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
    chr164952351449892830614844Joubert syndrome 19360455716q12.1
    chr164952351449892830614844Nephronophthisis 14360455716q12.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr16495235144989283023090Zfp423MGI:1891217MP:0002873normal phenotype
    chr16495235144989283023090Zfp423MGI:1891217MP:0003631nervous system phenotype
    chr16495235144989283023090Zfp423MGI:1891217MP:0005376homeostasis/metabolism phenotype
    chr16495235144989283023090Zfp423MGI:1891217MP:0005378growth/size phenotype
    chr16495235144989283023090Zfp423MGI:1891217MP:0005382craniofacial phenotype
    chr16495235144989283023090Zfp423MGI:1891217MP:0005384cellular phenotype
    chr16495235144989283023090Zfp423MGI:1891217MP:0005386behavior/neurological phenotype
    chr16495235144989283023090Zfp423MGI:1891217MP:0005388respiratory system phenotype
    chr16495235144989283023090Zfp423MGI:1891217MP:0005394taste/olfaction phenotype
    chr16495235144989283023090Zfp423MGI:1891217MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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