Quick Search:

  • Top 5 genes

    Top 5 diseases

    Data summary

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

    Detailed information for CDH23






    Basic information
    Official symbolC8orf37
    Official full namechromosome 8 open reading frame 37
    Location8q22.1
    Gene typeprotein-coding
    SynonymsCORD16|RP64|smalltalk
    Quick linksEntrez ID:157657; HGNC:27232; MIM:614477; Ensembl:ENSG00000156172; HPRD:14104; Vega:OTTHUMG00000164663
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    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
    chr89625614096282462614500Cone-rod dystrophy 1636144778q22.1
    chr89625614096282462614500Retinitis pigmentosa 6436144778q22.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr896256140962824621576572610301B20RikMGI:1914407--
    Mutation spectrum

    If you cannot see the mutation spectrum below, please download and install the SVG plugin by clicking here.

    Gene-disease network

    If you cannot see the gene-disease network below, please download and install the SVG plugin by clicking here.


    Contact us if you are an author of a study regarding this gene and do not find your study in RetinoGenetics or find errors in the representation of your study details.