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Phenopedia


Trisomy

We have to retire this site due to some reasons. This site has not longer been updated and some links are not working properly.
156 genes has been reported with Trisomy
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Associated Gene
Total Publication
Meta-analysis Publication
    NOTCH1 Genopedia 17 0
    MTHFR Genopedia 17 0
    TP53 Genopedia 14 0
    SF3B1 Genopedia 7 0
    JAK2 Genopedia 7 0
    ASXL1 Genopedia 6 0
    FLT3 Genopedia 6 1
    IDH1 Genopedia 5 1
    RFC1 Genopedia 5 0
    MTR Genopedia 4 0
    MTRR Genopedia 4 0
    IGH@ Genopedia 4 0
    BIRC3 Genopedia 3 0
    LOC390714 Genopedia 3 0
    IDH2 Genopedia 3 1
    IGHV3-H Genopedia 3 0
    NPM1 Genopedia 3 0
    CRELD1 Genopedia 3 0
    RUNX1 Genopedia 3 0
    CBS Genopedia 2 0
    CALR Genopedia 2 0
    CD38 Genopedia 2 0
    TNF Genopedia 2 0
    TERC Genopedia 2 0
    TERT Genopedia 2 0
    XPO1 Genopedia 2 0
    NRAS Genopedia 2 0
    MYD88 Genopedia 2 0
    ATM Genopedia 2 0
    FBXW7 Genopedia 2 0
    PRDM9 Genopedia 2 0
    MPL Genopedia 2 0
    IGF1R Genopedia 2 0
    RET Genopedia 2 0
    GSTM1 Genopedia 2 0
    MDM2 Genopedia 2 0
    KIT Genopedia 2 0
    KRAS Genopedia 2 0
    IGHV@ Genopedia 2 0
    ENG Genopedia 2 0
    ETV6 Genopedia 2 0
    DNMT3A Genopedia 2 0
    NKX2-5 Genopedia 2 0
    PLAC4 Genopedia 2 0
    DHFR Genopedia 2 0
    NQO1 Genopedia 2 0
    COL6A2 Genopedia 2 0
    COL6A3 Genopedia 1 0
    COMT Genopedia 1 0
    CCDC26 Genopedia 1 0
    CREBBP Genopedia 1 0
    GATA5 Genopedia 1 0
    CST3 Genopedia 1 0
    DKC1 Genopedia 1 0
    NAT2 Genopedia 1 0
    DEL13Q14 Genopedia 1 0
    CEBPZ Genopedia 1 0
    CDKN2A Genopedia 1 0
    CDKN2B Genopedia 1 0
    IKZF1 Genopedia 1 0
    COLEC10 Genopedia 1 0
    TC2N Genopedia 1 0
    COL6A1 Genopedia 1 0
    EGFR Genopedia 1 0
    CYP2E1 Genopedia 1 0
    CD55 Genopedia 1 0
    JAG1 Genopedia 1 0
    DYRK1A Genopedia 1 0
    EDN3 Genopedia 1 0
    EDNRB Genopedia 1 0
    EZH2 Genopedia 1 0
    FBLN2 Genopedia 1 0
    SMG1 Genopedia 1 0
    FLNA Genopedia 1 0
    FLT1 Genopedia 1 0
    ERCC2 Genopedia 1 0
    ETS2 Genopedia 1 0
    FMR1 Genopedia 1 0
    APP Genopedia 1 0
    IL10 Genopedia 1 0
    IRF4 Genopedia 1 0
    ITGA4 Genopedia 1 0
    GSTK1 Genopedia 1 0
    KCNH2 Genopedia 1 0
    KCNJ6 Genopedia 1 0
    KCNK3 Genopedia 1 0
    HTR2C Genopedia 1 0
    MDM4 Genopedia 1 0
    MID1 Genopedia 1 0
    LIG4 Genopedia 1 0
    SMAD9 Genopedia 1 0
    GSTP1 Genopedia 1 0
    GSTT1 Genopedia 1 0
    GUSB Genopedia 1 0
    IFNG Genopedia 1 0
    APOE Genopedia 1 0
    FRZB Genopedia 1 0
    ABL1 Genopedia 1 0
    BACE2 Genopedia 1 0
    SETBP1 Genopedia 1 0
    GATA3 Genopedia 1 0
    GATA4 Genopedia 1 0
    GGT1 Genopedia 1 0
    DNAI1 Genopedia 1 0
    FOXP1 Genopedia 1 0
    GLI1 Genopedia 1 0
    IGHV3OR16-7 Genopedia 1 0
    EIF2AK4 Genopedia 1 0
    MTHFD1 Genopedia 1 0
    PTEN Genopedia 1 0
    MARK4 Genopedia 1 0
    RAD51 Genopedia 1 0
    RB1 Genopedia 1 0
    BCL2 Genopedia 1 0
    NOP10 Genopedia 1 0
    CHD7 Genopedia 1 0
    NHP2 Genopedia 1 0
    PSEN1 Genopedia 1 0
    B2M Genopedia 1 0
    ZNF295 Genopedia 1 0
    P2RX7 Genopedia 1 0
    PAX5 Genopedia 1 0
    ZBTB7A Genopedia 1 0
    PIGA Genopedia 1 0
    SERPINF2 Genopedia 1 0
    RIPK4 Genopedia 1 0
    TREM2 Genopedia 1 0
    GAR1 Genopedia 1 0
    KRT20 Genopedia 1 0
    ATR Genopedia 1 0
    TET2 Genopedia 1 0
    BCOR Genopedia 1 0
    XRCC3 Genopedia 1 0
    USP7 Genopedia 1 0
    TGFBR1 Genopedia 1 0
    CALCR Genopedia 1 0
    BCL3 Genopedia 1 0
    BCORL1 Genopedia 1 0
    BHMT Genopedia 1 0
    SRSF2 Genopedia 1 0
    SHMT1 Genopedia 1 0
    SIM2 Genopedia 1 0
    SLC6A3 Genopedia 1 0
    BMPR2 Genopedia 1 0
    STATH Genopedia 1 0
    T Genopedia 1 0
    TBX1 Genopedia 1 0
    TCN1 Genopedia 1 0
    TCN2 Genopedia 1 0
    ZEB2 Genopedia 1 0
    KIAA0196 Genopedia 1 0
    PHF6 Genopedia 1 0
    PDXK Genopedia 1 0
    CAV1 Genopedia 1 0
    ACVRL1 Genopedia 1 0
    TBX4 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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