Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Down Syndrome
154 genes has been reported with Down Syndrome
[Click Sort to re-sort the table]
Associated Gene
Total Publication
Meta-analysis Publication
    MTHFR Genopedia 58 8
    MTRR Genopedia 25 5
    APOE Genopedia 21 0
    MTR Genopedia 18 4
    RFC1 Genopedia 12 1
    CBS Genopedia 8 2
    APP Genopedia 7 0
    GATA1 Genopedia 6 0
    FLT3 Genopedia 5 0
    BHMT Genopedia 5 0
    SLC19A1 Genopedia 5 2
    CRELD1 Genopedia 5 0
    MTHFD1 Genopedia 5 1
    TP53 Genopedia 4 0
    JAK2 Genopedia 4 0
    KRAS Genopedia 4 0
    MLL Genopedia 4 0
    KIT Genopedia 3 0
    IL6 Genopedia 3 0
    DHFR Genopedia 3 0
    DNMT3B Genopedia 3 0
    TCN2 Genopedia 3 1
    RUNX1 Genopedia 3 0
    CRLF2 Genopedia 3 0
    PTPN11 Genopedia 3 0
    PRNP Genopedia 3 0
    NRAS Genopedia 3 0
    TREM2 Genopedia 2 0
    RET Genopedia 2 0
    SORL1 Genopedia 2 0
    SIM2 Genopedia 2 0
    RUNX1T1 Genopedia 2 0
    BTG1 Genopedia 2 0
    ETS2 Genopedia 2 0
    DSCAM Genopedia 2 0
    RCAN1 Genopedia 2 0
    DYRK1A Genopedia 2 0
    IKZF1 Genopedia 2 0
    IL10 Genopedia 2 0
    MDM2 Genopedia 2 0
    MAPT Genopedia 2 0
    P2RY8 Genopedia 2 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
    IFNAR1 Genopedia 1 0
    IFNAR2 Genopedia 1 0
    IFNG Genopedia 1 0
    IFNGR2 Genopedia 1 0
    GATA3 Genopedia 1 0
    GATA4 Genopedia 1 0
    GJA1 Genopedia 1 0
    GJB2 Genopedia 1 0
    GJB3 Genopedia 1 0
    RNF212 Genopedia 1 0
    IL1A Genopedia 1 0
    IL1B Genopedia 1 0
    IL1RN Genopedia 1 0
    MBL2 Genopedia 1 0
    LCN2 Genopedia 1 0
    ARSA Genopedia 1 0
    MDM4 Genopedia 1 0
    IL10RB Genopedia 1 0
    IGH@ Genopedia 1 0
    SLC26A5 Genopedia 1 0
    KCNH2 Genopedia 1 0
    KCNJ6 Genopedia 1 0
    PEMT Genopedia 1 0
    CEBPA Genopedia 1 0
    GJB6 Genopedia 1 0
    ADD3 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
    DDX3X 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
    SMC3 Genopedia 1 0
    ADIPOQ Genopedia 1 0
    MAGI2 Genopedia 1 0
    CBFB Genopedia 1 0
    THPO Genopedia 1 0
    TNF Genopedia 1 0
    TRH Genopedia 1 0
    TYMS Genopedia 1 0
    VEGFA Genopedia 1 0
    XRCC1 Genopedia 1 0
    YWHAE Genopedia 1 0
    USP7 Genopedia 1 0
    SLC6A3 Genopedia 1 0
    SLC6A4 Genopedia 1 0
    STATH Genopedia 1 0
    SHMT1 Genopedia 1 0
    SHMT2 Genopedia 1 0
    CEP290 Genopedia 1 0
    PNPLA3 Genopedia 1 0
    TAM Genopedia 1 0
    USP9X Genopedia 1 0
    PICALM Genopedia 1 0
    PHF6 Genopedia 1 0
    PDXK Genopedia 1 0
    RNR1 Genopedia 1 0
    ALDH18A1 Genopedia 1 0
    RASA1 Genopedia 1 0
    PPBP Genopedia 1 1
    BCOR Genopedia 1 0
    CHDH Genopedia 1 0
    PRL 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
    NEFL Genopedia 1 0
    NOS3 Genopedia 1 0
    NOTCH1 Genopedia 1 0
    NOTCH4 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.
TOP