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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4570
    • SNVs : 3402
    • InDels : 1168
    • Last Update : 07/03/2016

    Pathway analysis






    Pathway commons enrichment analysis
    TermNumber of reference genesNumber of genesExpecteed numberRatio of enrichmentP-ValueAdjusted P-ValueGenes related
    Visual signal transduction: Rods24170.11157.472.08e-352.14e-33
    LRAT|GUCA1B|SAG|PDE6G|RGS9|SLC24A1|RPE65|GUCY2D|PDE6A|RDH5|RHO|RGS9BP|RDH12|CNGA1|PDE6B|GUCA1A|GRK1| |
    Visual signal transduction: Cones23150.10144.981.71e-308.81e-29
    RGS9|GNAT2|PDE6C|GUCY2D|RPE65|RDH5|PDE6H|RGS9BP|RDH12|GUCA1A|CNGA3|GRK1|LRAT|CNGB3|GUCA1B |
    Loss of Nlp from mitotic centrosomes6160.2721.873.47e-076.56e-06
    CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 |
    Golgi Cisternae Pericentriolar Stack Reorganization6260.2821.513.82e-076.56e-06
    CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 |
    Loss of proteins required for interphase microtubule organizationàfrom the centrosome6160.2721.873.47e-076.56e-06
    CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 |
    Mitotic Prophase6260.2821.513.82e-076.56e-06
    CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 |
    Centrosome maturation7060.3119.057.91e-071.02e-05
    CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 |
    Recruitment of mitotic centrosome proteins and complexes7060.3119.057.91e-071.02e-05
    CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 |
    Opsins630.03111.151.77e-062.03e-05
    RHO|OPN1LW|OPN1MW |
    G2/M Transition9660.4313.895.08e-065.23e-05
    CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 |
    Mitotic G2-G2/M phases9960.4513.476.07e-065.68e-05
    CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 |
    G alpha (i) signalling events3240.1427.791.29e-050.0001
    RHO|GNAT2|OPN1LW|OPN1MW |
    M Phase15860.718.448.54e-050.0007
    CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 |
    DNA Replication26171.175.960.00020.0015
    CEP164|RB1|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 |
    Cell Cycle, Mitotic31871.434.890.00060.0041
    CEP164|RB1|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 |
    Mitotic M-M/G1 phases24261.095.510.00080.0052
    CEP164|CEP290|ALMS1|SDCCAG8|OFD1|NEK2 |
    mRNA Splicing - Minor Pathway4230.1915.880.00090.0055
    PRPF8|SNRNP200|PRPF6 |
    mRNA Splicing10740.488.310.00140.0076
    PRPF8|PRPF4|SNRNP200|PRPF6 |
    mRNA Splicing - Major Pathway10740.488.310.00140.0076
    PRPF8|PRPF4|SNRNP200|PRPF6 |
    Processing of Capped Intron-Containing Pre-mRNA13840.626.440.00360.0185
    PRPF8|PRPF4|SNRNP200|PRPF6 |
    mRNA Processing15740.715.660.00570.0267
    PRPF8|PRPF4|SNRNP200|PRPF6 |
    ABC-family proteins mediated transport2520.1117.780.00560.0267
    ABCA4|ABCC6 |
    Wnt8230.378.130.00610.0273
    LRP5|FZD4|PAX2 |
    Formation and Maturation of mRNA Transcript18540.834.810.01000.0429
    PRPF8|PRPF4|SNRNP200|PRPF6 |
    KEGG pathway
    TermNumber of reference genesNumber of genesExpecteed numberRatio of enrichmentP-ValueAdjusted P-ValueGenes related
    Phototransduction29120.1391.992.36e-215.66e-20
    RGS9|PDE6G|GNAT2|SLC24A1|GUCY2D|PDE6A|RHO|CNGA1|PDE6B|GUCA1A|GRK1|GUCA1B |
    Purine metabolism16270.739.619.46e-060.0001
    IMPDH1|PDE6G|PDE6C|PDE6B|GUCY2D|PDE6A|PDE6H |
    Spliceosome12760.5710.502.52e-050.0002
    PRPF4|PRPF8|PRPF3|SNRNP200|PRPF6|PRPF31 |
    Peroxisome7950.3614.073.01e-050.0002
    PEX7|MVK|PEX2|PHYH|PEX1 |
    Retinol metabolism6440.2913.890.00020.0010
    RDH12|RPE65|LRAT|RDH5 |
    Terpenoid backbone biosynthesis1520.0729.640.00200.0080
    DHDDS|MVK |
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)7430.339.010.00460.0158
    CACNA1F|DMD|CACNA2D4 |
    Hypertrophic cardiomyopathy (HCM)8330.378.040.00630.0168
    CACNA1F|DMD|CACNA2D4 |
    Protein digestion and absorption8130.368.230.00590.0168
    COL11A1|COL9A1|COL2A1 |
    Dilated cardiomyopathy9030.407.410.00790.0190
    CACNA1F|DMD|CACNA2D4 |
    ABC transporters4420.2010.100.01680.0367
    ABCA4|ABCC6 |
    WIKI pathway
    TermNumber of reference genesNumber of genesExpecteed numberRatio of enrichmentP-ValueAdjusted P-ValueGenes related
    Vitamin A and carotenoid metabolism4960.2227.229.13e-081.00e-06
    RBP4|RDH12|RPE65|LRAT|RDH5|RLBP |
    ID signaling pathway1520.0729.640.00200.0110
    RB1|PAX2 |
    mRNA processing13240.596.740.00310.0114
    PRPF4|PRPF8|PRPF3|PRPF6 |
    Arrhythmogenic right ventricular cardiomyopathy10830.496.180.01300.0357
    CACNA1F|DMD|CACNA2D4 |