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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Down Syndrome
147 genes has been reported with Down Syndrome
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Associated Gene
Total Publication
Meta-analysis Publication
    MTHFR Genopedia 56 8
    MTRR Genopedia 25 5
    APOE Genopedia 20 0
    MTR Genopedia 18 4
    RFC1 Genopedia 12 1
    CBS Genopedia 8 2
    GATA1 Genopedia 6 0
    APP Genopedia 6 0
    MTHFD1 Genopedia 5 1
    CRELD1 Genopedia 5 0
    SLC19A1 Genopedia 5 2
    BHMT Genopedia 5 0
    FLT3 Genopedia 5 0
    TP53 Genopedia 4 0
    MLL Genopedia 4 0
    JAK2 Genopedia 4 0
    KRAS Genopedia 4 0
    PTPN11 Genopedia 3 0
    TCN2 Genopedia 3 1
    PRNP Genopedia 3 0
    KIT Genopedia 3 0
    NRAS Genopedia 3 0
    RUNX1 Genopedia 3 0
    DHFR Genopedia 3 0
    DNMT3B Genopedia 3 0
    IL6 Genopedia 3 0
    SIM2 Genopedia 2 0
    IL10 Genopedia 2 0
    CRLF2 Genopedia 2 0
    MDM2 Genopedia 2 0
    RET Genopedia 2 0
    DSCAM Genopedia 2 0
    RCAN1 Genopedia 2 0
    SORL1 Genopedia 2 0
    ETS2 Genopedia 2 0
    DYRK1A Genopedia 2 0
    RUNX1T1 Genopedia 2 0
    TREM2 Genopedia 2 0
    PSEN1 Genopedia 1 0
    THPO Genopedia 1 0
    YWHAE Genopedia 1 0
    MBL2 Genopedia 1 0
    TC2N Genopedia 1 0
    CPS1 Genopedia 1 0
    PRDM9 Genopedia 1 0
    PICALM Genopedia 1 0
    MYH11 Genopedia 1 0
    ZNF295 Genopedia 1 0
    PAX5 Genopedia 1 0
    IKZF1 Genopedia 1 0
    DRD4 Genopedia 1 0
    ESR2 Genopedia 1 0
    FLNA Genopedia 1 0
    GATA3 Genopedia 1 0
    HLA-DQB1 Genopedia 1 0
    IFNAR2 Genopedia 1 0
    TNF Genopedia 1 0
    PDXK Genopedia 1 0
    AEBP2 Genopedia 1 0
    COL6A3 Genopedia 1 0
    NKX2-5 Genopedia 1 0
    CD55 Genopedia 1 0
    ERCC2 Genopedia 1 0
    FBLN2 Genopedia 1 0
    IL1A Genopedia 1 0
    MDM4 Genopedia 1 0
    SLC6A3 Genopedia 1 0
    RASA1 Genopedia 1 0
    VEGFA Genopedia 1 0
    PNPLA3 Genopedia 1 0
    TAM Genopedia 1 0
    LCN2 Genopedia 1 0
    NDUFB3 Genopedia 1 0
    PTGDR Genopedia 1 0
    CST3 Genopedia 1 0
    ENG Genopedia 1 0
    GJA1 Genopedia 1 0
    GUSB Genopedia 1 0
    HLA-B Genopedia 1 0
    COMT Genopedia 1 0
    BACE2 Genopedia 1 0
    GJB3 Genopedia 1 0
    HFE Genopedia 1 0
    IFNAR1 Genopedia 1 0
    IFNGR2 Genopedia 1 0
    NOTCH4 Genopedia 1 0
    NPM1 Genopedia 1 0
    SLC26A4 Genopedia 1 0
    ALDH18A1 Genopedia 1 0
    CYP17A1 Genopedia 1 0
    EBF1 Genopedia 1 0
    PAFAH1B1 Genopedia 1 0
    SLC6A4 Genopedia 1 0
    STATH Genopedia 1 0
    BTG1 Genopedia 1 0
    CEP290 Genopedia 1 0
    CBFB Genopedia 1 0
    RNR1 Genopedia 1 0
    CEBPA Genopedia 1 0
    COL6A2 Genopedia 1 0
    GATA5 Genopedia 1 0
    FRZB Genopedia 1 0
    GATA4 Genopedia 1 0
    P2RY8 Genopedia 1 0
    HLA-DRB1 Genopedia 1 0
    IFNG Genopedia 1 0
    IL1B Genopedia 1 0
    SLC26A5 Genopedia 1 0
    ARSA Genopedia 1 0
    RIPK4 Genopedia 1 0
    PARD3 Genopedia 1 0
    MARK4 Genopedia 1 0
    KCNH2 Genopedia 1 0
    PHF1 Genopedia 1 0
    PPBP Genopedia 1 1
    RNF213 Genopedia 1 0
    SHMT1 Genopedia 1 0
    TYMS Genopedia 1 0
    XRCC1 Genopedia 1 0
    MAGI2 Genopedia 1 0
    GJB6 Genopedia 1 0
    ESR1 Genopedia 1 0
    PRL Genopedia 1 0
    ADIPOQ Genopedia 1 0
    SHMT2 Genopedia 1 0
    IL10RB Genopedia 1 0
    COL6A1 Genopedia 1 0
    IL1RN Genopedia 1 0
    TRNS1 Genopedia 1 0
    MYO9B Genopedia 1 0
    NOTCH1 Genopedia 1 0
    PML Genopedia 1 0
    CHDH Genopedia 1 0
    TRH Genopedia 1 0
    GSTM1 Genopedia 1 0
    HLA-A Genopedia 1 0
    CYP19A1 Genopedia 1 0
    BACE1 Genopedia 1 0
    GJB2 Genopedia 1 0
    HSD17B1 Genopedia 1 0
    KCNJ6 Genopedia 1 0
    NOS3 Genopedia 1 0
    BCOR Genopedia 1 0
    USP7 Genopedia 1 0
    PHF6 Genopedia 1 0
    SMC3 Genopedia 1 0
    PEMT 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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