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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Down Syndrome

155 genes has been reported with Down Syndrome
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Associated Gene
Total Publication
Meta-analysis Publication
    MTHFR Genopedia 62 10
    MTRR Genopedia 25 5
    APOE Genopedia 23 1
    MTR Genopedia 18 4
    RFC1 Genopedia 14 1
    CBS Genopedia 9 2
    APP Genopedia 6 0
    JAK2 Genopedia 6 0
    GATA1 Genopedia 5 0
    FLT3 Genopedia 5 0
    CRELD1 Genopedia 5 0
    BHMT Genopedia 5 1
    SLC19A1 Genopedia 5 2
    MTHFD1 Genopedia 5 1
    MLL Genopedia 4 0
    TCN2 Genopedia 4 1
    TP53 Genopedia 4 0
    KRAS Genopedia 4 0
    KIT Genopedia 3 0
    DNMT3B Genopedia 3 0
    RUNX1 Genopedia 3 0
    TNF Genopedia 3 0
    CRLF2 Genopedia 3 0
    PRNP Genopedia 3 0
    PTPN11 Genopedia 3 0
    NRAS Genopedia 3 0
    PSEN1 Genopedia 2 0
    TREM2 Genopedia 2 0
    SIM2 Genopedia 2 0
    RET Genopedia 2 0
    SORL1 Genopedia 2 0
    RUNX1T1 Genopedia 2 0
    PICALM Genopedia 2 0
    ETS2 Genopedia 2 0
    DSCAM Genopedia 2 0
    RCAN1 Genopedia 2 0
    DYRK1A Genopedia 2 0
    EDNRB Genopedia 2 0
    PLAC4 Genopedia 2 1
    IKZF1 Genopedia 2 0
    COL6A2 Genopedia 2 1
    NKX2-5 Genopedia 2 0
    DHFR Genopedia 2 0
    IL6 Genopedia 2 0
    IL10 Genopedia 2 0
    GSTM1 Genopedia 2 0
    GSTP1 Genopedia 1 0
    GSTT1 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
    IDE Genopedia 1 0
    IFNG Genopedia 1 0
    GATA3 Genopedia 1 0
    GATA4 Genopedia 1 0
    GJA1 Genopedia 1 0
    GJB2 Genopedia 1 0
    GJB3 Genopedia 1 0
    BIN1 Genopedia 1 0
    P2RY8 Genopedia 1 0
    LCN2 Genopedia 1 0
    ARSA Genopedia 1 0
    MBL2 Genopedia 1 0
    MDM2 Genopedia 1 0
    MDM4 Genopedia 1 0
    SLC26A5 Genopedia 1 0
    KCNH2 Genopedia 1 0
    KCNJ6 Genopedia 1 1
    IL1A Genopedia 1 0
    IL1B Genopedia 1 0
    IL1RN Genopedia 1 0
    CYP17A1 Genopedia 1 0
    CYP19A1 Genopedia 1 0
    CD55 Genopedia 1 0
    COL6A3 Genopedia 1 0
    COMT Genopedia 1 0
    CPS1 Genopedia 1 0
    CR1 Genopedia 1 0
    GATA5 Genopedia 1 0
    CST3 Genopedia 1 0
    ABCA7 Genopedia 1 0
    PEMT Genopedia 1 1
    CEBPA Genopedia 1 0
    GJB6 Genopedia 1 0
    CLU Genopedia 1 0
    AEBP2 Genopedia 1 0
    TC2N Genopedia 1 0
    COL6A1 Genopedia 1 0
    ENG Genopedia 1 0
    EPHA1 Genopedia 1 0
    ERCC2 Genopedia 1 0
    ESR1 Genopedia 1 0
    ESR2 Genopedia 1 0
    EBF1 Genopedia 1 0
    EDN3 Genopedia 1 0
    FBLN2 Genopedia 1 0
    FLNA Genopedia 1 0
    DRD4 Genopedia 1 0
    JAG1 Genopedia 1 0
    CD2AP Genopedia 1 0
    BACE1 Genopedia 1 0
    FRZB Genopedia 1 0
    BACE2 Genopedia 1 0
    PHF6 Genopedia 1 0
    PDXK Genopedia 1 1
    CALCR Genopedia 1 1
    TRH Genopedia 1 0
    TYMS Genopedia 1 0
    XRCC1 Genopedia 1 0
    YWHAE Genopedia 1 0
    USP7 Genopedia 1 0
    CBFB Genopedia 1 0
    SMC3 Genopedia 1 0
    CD33 Genopedia 1 0
    MAGI2 Genopedia 1 0
    STATH Genopedia 1 0
    TBX1 Genopedia 1 0
    BTG1 Genopedia 1 0
    TCN1 Genopedia 1 0
    THPO Genopedia 1 0
    SLC6A3 Genopedia 1 0
    SLC6A4 Genopedia 1 0
    RNR1 Genopedia 1 0
    MS4A6A Genopedia 1 0
    SHMT1 Genopedia 1 0
    SHMT2 Genopedia 1 0
    PPBP Genopedia 1 1
    BCOR Genopedia 1 0
    CHDH Genopedia 1 1
    PRL Genopedia 1 0
    PRDM9 Genopedia 1 0
    PTGDR Genopedia 1 0
    RNF213 Genopedia 1 0
    MARK4 Genopedia 1 0
    ALDH18A1 Genopedia 1 0
    RASA1 Genopedia 1 0
    PARD3 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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