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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 PEX1






    Basic information
    Official symbolPEX1
    Official full nameperoxisomal biogenesis factor 1
    Location7q21.2
    Gene typeprotein-coding
    SynonymsPBD1A|PBD1B|ZWS|ZWS1
    Quick linksEntrez ID:5189; HGNC:8850; MIM:602136; Ensembl:ENSG00000127980; HPRD:03682; Vega:OTTHUMG00000023926
    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:0043168anion binding24024026.721.500.00480.0336
    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
    chr79211533692158845214100Peroxisome biogenesis disorder 1A (Zellweger)36021367q21.2
    chr79211533692158845601539Peroxisome biogenesis disorder 1B (NALD/IRD)36021367q21.2
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr792115336921588455189Pex1MGI:1918632--
    Mutation spectrum

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    Gene-disease network

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