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Phenopedia


Down Syndrome

146 genes has been reported with Down Syndrome
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Associated Gene
Total Publication
Meta-analysis Publication
    MTHFR Genopedia 58 8
    MTRR Genopedia 24 5
    APOE Genopedia 21 1
    MTR Genopedia 18 4
    RFC1 Genopedia 12 0
    CBS Genopedia 9 2
    JAK2 Genopedia 6 0
    APP Genopedia 5 0
    BHMT Genopedia 5 1
    MTHFD1 Genopedia 5 1
    GATA1 Genopedia 5 0
    SLC19A1 Genopedia 5 2
    CRELD1 Genopedia 5 0
    FLT3 Genopedia 4 0
    TCN2 Genopedia 4 1
    KRAS Genopedia 3 0
    MLL Genopedia 3 0
    DNMT3B Genopedia 3 0
    TP53 Genopedia 3 0
    TNF Genopedia 3 0
    CRLF2 Genopedia 3 0
    PRNP Genopedia 3 0
    PICALM Genopedia 2 0
    KIT Genopedia 2 0
    DYRK1A Genopedia 2 0
    SIM2 Genopedia 2 0
    SORL1 Genopedia 2 0
    RUNX1 Genopedia 2 0
    PTPN11 Genopedia 2 0
    IKZF1 Genopedia 2 0
    NRAS Genopedia 2 0
    ETS2 Genopedia 2 0
    GSTM1 Genopedia 2 0
    TREM2 Genopedia 2 0
    DHFR Genopedia 2 0
    COL6A2 Genopedia 2 1
    RET Genopedia 2 0
    NKX2-5 Genopedia 2 0
    DSCAM Genopedia 2 0
    RCAN1 Genopedia 2 0
    EDNRB Genopedia 2 0
    PLAC4 Genopedia 2 1
    ERCC2 Genopedia 1 0
    ESR1 Genopedia 1 0
    FBLN2 Genopedia 1 0
    GSTP1 Genopedia 1 0
    MDM4 Genopedia 1 0
    CD55 Genopedia 1 0
    AEBP2 Genopedia 1 0
    COL6A3 Genopedia 1 0
    SHMT1 Genopedia 1 0
    PPBP Genopedia 1 1
    RNF213 Genopedia 1 0
    XRCC1 Genopedia 1 0
    MAGI2 Genopedia 1 0
    CR1 Genopedia 1 0
    MS4A6A Genopedia 1 0
    SHMT2 Genopedia 1 0
    COL6A1 Genopedia 1 0
    ENG Genopedia 1 0
    CD2AP Genopedia 1 0
    FRZB Genopedia 1 0
    GJA1 Genopedia 1 0
    P2RY8 Genopedia 1 0
    HLA-B Genopedia 1 0
    IFNG Genopedia 1 0
    IL1RN Genopedia 1 0
    IL10 Genopedia 1 0
    NDUFB3 Genopedia 1 0
    NOTCH1 Genopedia 1 0
    RIPK4 Genopedia 1 0
    CHDH Genopedia 1 1
    PTGDR Genopedia 1 0
    LCN2 Genopedia 1 0
    ARSA Genopedia 1 0
    MDM2 Genopedia 1 0
    PSEN1 Genopedia 1 0
    ALDH18A1 Genopedia 1 0
    YWHAE Genopedia 1 0
    RUNX1T1 Genopedia 1 0
    GSTT1 Genopedia 1 0
    HLA-A Genopedia 1 0
    NPM1 Genopedia 1 0
    BACE2 Genopedia 1 0
    BIN1 Genopedia 1 0
    CLU Genopedia 1 0
    TC2N Genopedia 1 0
    CPS1 Genopedia 1 0
    GATA3 Genopedia 1 0
    GJB2 Genopedia 1 0
    HLA-DQB1 Genopedia 1 0
    HSD17B1 Genopedia 1 0
    DRD4 Genopedia 1 0
    KCNJ6 Genopedia 1 1
    ZNF295 Genopedia 1 0
    PAX5 Genopedia 1 0
    BCOR Genopedia 1 0
    STATH Genopedia 1 0
    PHF6 Genopedia 1 0
    RASA1 Genopedia 1 0
    RNR1 Genopedia 1 0
    TRNS1 Genopedia 1 0
    MYO9B Genopedia 1 0
    PARD3 Genopedia 1 0
    CEBPA Genopedia 1 0
    GATA5 Genopedia 1 0
    GATA4 Genopedia 1 0
    GUSB Genopedia 1 0
    HLA-DRB1 Genopedia 1 0
    IL1B Genopedia 1 0
    SLC26A5 Genopedia 1 0
    TYMS Genopedia 1 0
    PDXK Genopedia 1 1
    TBX1 Genopedia 1 0
    GJB6 Genopedia 1 0
    EDN3 Genopedia 1 0
    IL1A Genopedia 1 0
    KCNH2 Genopedia 1 0
    PHF1 Genopedia 1 0
    PRL Genopedia 1 0
    TCN1 Genopedia 1 0
    THPO Genopedia 1 0
    TRH Genopedia 1 0
    CD33 Genopedia 1 0
    GJB3 Genopedia 1 0
    HFE Genopedia 1 0
    CYP19A1 Genopedia 1 0
    JAG1 Genopedia 1 0
    MBL2 Genopedia 1 0
    SLC26A4 Genopedia 1 0
    SMC3 Genopedia 1 0
    NOS3 Genopedia 1 0
    PAFAH1B1 Genopedia 1 0
    SLC6A4 Genopedia 1 0
    BTG1 Genopedia 1 0
    USP7 Genopedia 1 0
    CALCR Genopedia 1 1
    ABCA7 Genopedia 1 0
    PEMT Genopedia 1 1
    CYP17A1 Genopedia 1 0
    EBF1 Genopedia 1 0
    EPHA1 Genopedia 1 0
    ESR2 Genopedia 1 0
    FLNA Genopedia 1 0
    BACE1 Genopedia 1 0
    IDE 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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