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  • Top 5 genes

    Top 5 diseases

    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4570
    • SNVs : 3402
    • InDels : 1168
    • Last Update : 17/07/2015

    Welcome to the RetinoGenetics home page!




    Inherited retinal degeneration (IRD), a leading cause of human blindness worldwide, is exceptionally heterogeneous with clinical heterogeneity and genetic variety. For the past two decades, great progresses have been achieved in identifying disease-causing genes and mutations. Due to the genetic complexity of IRD, full spectrum and frequency in different populations of the mutations facilitate to improve genetic diagnosis, counseling and potential gene therapy. Meantime, there are growing needs to integrate genetic findings together.
    To address this issue, we developed a comprehensive database, RetinoGenetics, which contains all known IRD-related genes and mutations as well as informative annotations.
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    You can browse RetinoGenetics by disease:

                      
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    Browse by chromosome at here.


    Or click here to browse all the mutations.


    A screen shot of browse and search tools in RetinoGenetics:
    Citation:
    Ran X, Cai W J, Huang X F, et al. 'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration[J]. Database, 2014, 2014: bau047. PubMed