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Phenopedia


Down Syndrome

We have to retire this site due to some reasons. This site has not longer been updated and some links are not working properly.
140 genes has been reported with Down Syndrome
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Associated Gene
Total Publication
Meta-analysis Publication
    MTHFR Genopedia 55 8
    MTRR Genopedia 24 5
    APOE Genopedia 20 0
    MTR Genopedia 17 4
    RFC1 Genopedia 12 1
    CBS Genopedia 8 2
    APP Genopedia 6 0
    GATA1 Genopedia 6 0
    FLT3 Genopedia 5 0
    CRELD1 Genopedia 5 0
    BHMT Genopedia 5 0
    SLC19A1 Genopedia 5 2
    MTHFD1 Genopedia 5 1
    MLL Genopedia 4 0
    TP53 Genopedia 4 0
    JAK2 Genopedia 4 0
    KRAS Genopedia 4 0
    IL6 Genopedia 3 0
    DHFR Genopedia 3 0
    DNMT3B Genopedia 3 0
    TCN2 Genopedia 3 1
    RUNX1 Genopedia 3 0
    KIT Genopedia 3 0
    PTPN11 Genopedia 3 0
    PRNP Genopedia 3 0
    NRAS Genopedia 3 0
    RET Genopedia 2 0
    TREM2 Genopedia 2 0
    RUNX1T1 Genopedia 2 0
    SORL1 Genopedia 2 0
    CRLF2 Genopedia 2 0
    SIM2 Genopedia 2 0
    ETS2 Genopedia 2 0
    DSCAM Genopedia 2 0
    RCAN1 Genopedia 2 0
    DYRK1A Genopedia 2 0
    IL10 Genopedia 2 0
    MDM2 Genopedia 2 0
    MDM4 Genopedia 1 0
    LCN2 Genopedia 1 0
    ARSA Genopedia 1 0
    MBL2 Genopedia 1 0
    SLC26A5 Genopedia 1 0
    KCNH2 Genopedia 1 0
    KCNJ6 Genopedia 1 0
    IL1A Genopedia 1 0
    IL1B Genopedia 1 0
    IL1RN Genopedia 1 0
    GATA3 Genopedia 1 0
    GATA4 Genopedia 1 0
    GJA1 Genopedia 1 0
    GJB2 Genopedia 1 0
    GJB3 Genopedia 1 0
    P2RY8 Genopedia 1 0
    GSTM1 Genopedia 1 0
    GUSB Genopedia 1 0
    HFE Genopedia 1 0
    HLA-A Genopedia 1 0
    HLA-B Genopedia 1 0
    HLA-DQB1 Genopedia 1 0
    HLA-DRB1 Genopedia 1 0
    HSD17B1 Genopedia 1 0
    IFNG Genopedia 1 0
    EBF1 Genopedia 1 0
    ENG Genopedia 1 0
    ERCC2 Genopedia 1 0
    ESR1 Genopedia 1 0
    ESR2 Genopedia 1 0
    FBLN2 Genopedia 1 0
    FLNA Genopedia 1 0
    DRD4 Genopedia 1 0
    BACE1 Genopedia 1 0
    FRZB Genopedia 1 0
    BACE2 Genopedia 1 0
    IKZF1 Genopedia 1 0
    PEMT Genopedia 1 0
    CEBPA Genopedia 1 0
    GJB6 Genopedia 1 0
    AEBP2 Genopedia 1 0
    TC2N Genopedia 1 0
    COL6A1 Genopedia 1 0
    COL6A2 Genopedia 1 0
    COL6A3 Genopedia 1 0
    COMT Genopedia 1 0
    CPS1 Genopedia 1 0
    GATA5 Genopedia 1 0
    CST3 Genopedia 1 0
    NKX2-5 Genopedia 1 0
    CYP17A1 Genopedia 1 0
    CYP19A1 Genopedia 1 0
    CD55 Genopedia 1 0
    SLC6A3 Genopedia 1 0
    SLC6A4 Genopedia 1 0
    RNR1 Genopedia 1 0
    SHMT1 Genopedia 1 0
    SHMT2 Genopedia 1 0
    STATH Genopedia 1 0
    BTG1 Genopedia 1 0
    TRH Genopedia 1 0
    TYMS Genopedia 1 0
    XRCC1 Genopedia 1 0
    YWHAE Genopedia 1 0
    USP7 Genopedia 1 0
    CBFB Genopedia 1 0
    THPO Genopedia 1 0
    TNF Genopedia 1 0
    PNPLA3 Genopedia 1 0
    TAM Genopedia 1 0
    PICALM Genopedia 1 0
    PHF6 Genopedia 1 0
    PDXK Genopedia 1 0
    SMC3 Genopedia 1 0
    ADIPOQ Genopedia 1 0
    MAGI2 Genopedia 1 0
    PPBP Genopedia 1 1
    BCOR Genopedia 1 0
    CHDH Genopedia 1 0
    PRL Genopedia 1 0
    ALDH18A1 Genopedia 1 0
    RASA1 Genopedia 1 0
    PARD3 Genopedia 1 0
    PSEN1 Genopedia 1 0
    PRDM9 Genopedia 1 0
    PTGDR Genopedia 1 0
    RNF213 Genopedia 1 0
    MARK4 Genopedia 1 0
    ZNF295 Genopedia 1 0
    PAFAH1B1 Genopedia 1 0
    PAX5 Genopedia 1 0
    SLC26A4 Genopedia 1 0
    PHF1 Genopedia 1 0
    PML Genopedia 1 0
    RIPK4 Genopedia 1 0
    TRNS1 Genopedia 1 0
    MYH11 Genopedia 1 0
    MYO9B Genopedia 1 0
    NDUFB3 Genopedia 1 0
    NOS3 Genopedia 1 0
    NOTCH1 Genopedia 1 0
    NPM1 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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