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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 CACNA2D4






    Basic information
    Official symbolCACNA2D4
    Official full namecalcium channel, voltage-dependent, alpha 2/delta subunit 4
    Location12p13.33
    Gene typeprotein-coding
    SynonymsRCD4
    Quick linksEntrez ID:93589; HGNC:20202; MIM:608171; Ensembl:ENSG00000151062; HPRD:12182; Vega:OTTHUMG00000168111
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0005488binding11955150132.971.130.00050.0090
    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
    chr1219001222028870610478Retinal cone dystrophy 4360817112p13.33
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr121900122202887093589Cacna2d4MGI:2442632MP:0005391vision/eye phenotype
    Mutation spectrum

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    Gene-disease network

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