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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 CA4






    Basic information
    Official symbolCA4
    Official full namecarbonic anhydrase IV
    Location17q23
    Gene typeprotein-coding
    SynonymsCAIV|Car4|RP17
    Quick linksEntrez ID:762; HGNC:1375; MIM:114760; Ensembl:ENSG00000167434; HPRD:00261; Vega:OTTHUMG00000179987
    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
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0044463cell projection part639426.976.032.11e-215.17e-20
    GO:0031253cell projection membrane187112.045.396.65e-064.07e-05
    GO:0044459plasma membrane part19184120.921.961.68e-059.98e-05
    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
    Hsapiens_Module_2471520.1512.980.01010.0350
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr175822630158237906600852Retinitis pigmentosa 17311476017q23.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr175822630158237906762Car4MGI:1096574MP:0005376homeostasis/metabolism phenotype
    chr175822630158237906762Car4MGI:1096574MP:0005378growth/size phenotype
    chr175822630158237906762Car4MGI:1096574MP:0005389reproductive system phenotype
    chr175822630158237906762Car4MGI:1096574MP:0010768mortality/aging
    Mutation spectrum

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    Gene-disease network

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