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Phenopedia


Retinal Dystrophies

We have to retire this site due to some reasons. This site has not longer been updated and some links are not working properly.
47 genes has been reported with Retinal Dystrophies
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Associated Gene
Total Publication
Meta-analysis Publication
    ABCA4 Genopedia 13 0
    USH2A Genopedia 7 0
    RHO Genopedia 4 0
    CRB1 Genopedia 4 0
    PRPH2 Genopedia 4 0
    RPGR Genopedia 4 0
    RDS Genopedia 3 0
    GUCY2D Genopedia 3 0
    CHM Genopedia 3 0
    RDH12 Genopedia 3 0
    COL2A1 Genopedia 2 0
    EYS Genopedia 2 0
    RP2 Genopedia 2 0
    CEP290 Genopedia 2 0
    OFD1 Genopedia 1 0
    PROM1 Genopedia 1 0
    PCDH21 Genopedia 1 0
    CACNA1F Genopedia 1 0
    ND4 Genopedia 1 0
    MYO7A Genopedia 1 0
    OPA1 Genopedia 1 0
    PAX2 Genopedia 1 0
    PLXNA2 Genopedia 1 0
    MYO3A Genopedia 1 0
    CNGB3 Genopedia 1 0
    SPATA7 Genopedia 1 0
    RPGRIP1 Genopedia 1 0
    BBS2 Genopedia 1 0
    RBP1 Genopedia 1 0
    RBP3 Genopedia 1 0
    CFH Genopedia 1 0
    RGR Genopedia 1 0
    RPE65 Genopedia 1 0
    RS1 Genopedia 1 0
    NMNAT1 Genopedia 1 0
    COL11A1 Genopedia 1 0
    TSPAN12 Genopedia 1 0
    PRPF31 Genopedia 1 0
    GNAT1 Genopedia 1 0
    GUCA1B Genopedia 1 0
    ERG Genopedia 1 0
    FBN1 Genopedia 1 0
    SNRNP200 Genopedia 1 0
    PLIN2 Genopedia 1 0
    CNGA3 Genopedia 1 0
    MERTK Genopedia 1 0
    PRPF8 Genopedia 1 0
Note: The number of publications displayed in this table will differ from the number displayed in the HuGE Literature Finder as the number in Phenopedia reflects only the indexed disease term, but the number in the HuGE Literature Finder reflects all text searches of the disease term including the indexed term.
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