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Phenopedia


Bone Diseases, Developmental

250 genes has been reported with Bone Diseases, Developmental
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Associated Gene
Total Publication
Meta-analysis Publication
    FBN1 Genopedia 31 1
    TSHR Genopedia 21 0
    TPO Genopedia 18 0
    COL1A1 Genopedia 17 1
    FGFR3 Genopedia 17 0
    DUOX2 Genopedia 17 0
    PAX8 Genopedia 16 1
    FGFR2 Genopedia 13 0
    GHR Genopedia 11 1
    COL1A2 Genopedia 10 1
    EXT1 Genopedia 10 0
    EXT2 Genopedia 9 0
    GH1 Genopedia 8 1
    FOXE1 Genopedia 8 0
    TWIST1 Genopedia 8 0
    VDR Genopedia 6 0
    NKX2-1 Genopedia 6 0
    FGFR1 Genopedia 6 0
    DUOXA2 Genopedia 6 0
    GNAS Genopedia 6 1
    COMP Genopedia 5 0
    NKX2-5 Genopedia 5 0
    TGFBR2 Genopedia 5 0
    PTCH1 Genopedia 5 0
    TREM2 Genopedia 4 1
    TG Genopedia 4 0
    TGFBR1 Genopedia 4 0
    ERCC8 Genopedia 4 0
    TXNRD2 Genopedia 4 0
    MATN3 Genopedia 4 0
    SLC26A4 Genopedia 4 0
    IGF1 Genopedia 4 0
    GHRHR Genopedia 4 0
    IRF6 Genopedia 3 0
    IGFBP3 Genopedia 3 0
    IGF1R Genopedia 3 0
    TCIRG1 Genopedia 3 0
    COL2A1 Genopedia 3 0
    CLCN7 Genopedia 3 0
    ESR1 Genopedia 3 0
    SHOX Genopedia 3 0
    SLC5A5 Genopedia 3 0
    STAT5A Genopedia 2 0
    STAT5B Genopedia 2 0
    TGFB1 Genopedia 2 0
    TCF12 Genopedia 2 0
    TCOF1 Genopedia 2 0
    ACP5 Genopedia 2 0
    LEPRE1 Genopedia 2 0
    PTEN Genopedia 2 0
    BMP2 Genopedia 2 0
    TYROBP Genopedia 2 1
    RUNX2 Genopedia 2 0
    TTF2 Genopedia 2 0
    ERCC6 Genopedia 2 0
    FBN2 Genopedia 2 0
    CREBBP Genopedia 2 0
    PAR1 Genopedia 2 0
    SLC26A2 Genopedia 2 0
    EFNB1 Genopedia 2 0
    COL11A1 Genopedia 2 0
    COL9A1 Genopedia 2 0
    COL9A2 Genopedia 2 0
    COL9A3 Genopedia 2 0
    IFITM5 Genopedia 2 0
    APOE Genopedia 2 0
    PPARG Genopedia 2 0
    SMAD3 Genopedia 2 0
    NPR2 Genopedia 2 0
    LEP Genopedia 2 0
    LEPR Genopedia 1 0
    LMX1B Genopedia 1 0
    LOX Genopedia 1 0
    LRP6 Genopedia 1 0
    LRP5 Genopedia 1 0
    CYP4F3 Genopedia 1 0
    OTX2 Genopedia 1 0
    SMARCAL1 Genopedia 1 0
    SMAD6 Genopedia 1 0
    ARSE Genopedia 1 0
    MC1R Genopedia 1 0
    MDM2 Genopedia 1 0
    MID1 Genopedia 1 0
    MMP1 Genopedia 1 0
    MTHFR Genopedia 1 0
    MYH11 Genopedia 1 0
    MYLK Genopedia 1 0
    MYT1 Genopedia 1 0
    HNRNPM Genopedia 1 1
    NF1 Genopedia 1 0
    NFE2L2 Genopedia 1 0
    ASPN Genopedia 1 0
    FBXW7 Genopedia 1 0
    UGGT2 Genopedia 1 0
    SELS Genopedia 1 0
    MAPK1 Genopedia 1 0
    MAPK3 Genopedia 1 0
    PROP1 Genopedia 1 0
    FAM20C Genopedia 1 0
    GPR126 Genopedia 1 0
    PTCH Genopedia 1 0
    SERPINF1 Genopedia 1 0
    PHEX Genopedia 1 0
    PIK3CA Genopedia 1 0
    POLR1D Genopedia 1 0
    ENPP1 Genopedia 1 0
    SUFU Genopedia 1 0
    GHSR Genopedia 1 0
    AMPD1 Genopedia 1 0
    BBS9 Genopedia 1 0
    GLI3 Genopedia 1 0
    FOS Genopedia 1 0
    FRZB Genopedia 1 0
    PTF1A Genopedia 1 0
    ABI3BP Genopedia 1 0
    ASPM Genopedia 1 0
    GATA3 Genopedia 1 0
    GBP3 Genopedia 1 0
    GBX2 Genopedia 1 0
    GCK Genopedia 1 0
    IYD Genopedia 1 0
    IGF2 Genopedia 1 0
    FAS Genopedia 1 0
    IL1B Genopedia 1 0
    IL6 Genopedia 1 0
    INS Genopedia 1 0
    INPPL1 Genopedia 1 0
    IRF7 Genopedia 1 0
    ITPR2 Genopedia 1 0
    JAK2 Genopedia 1 0
    JUNB Genopedia 1 0
    JUND Genopedia 1 0
    KCNJ11 Genopedia 1 0
    KIT Genopedia 1 1
    COL10A1 Genopedia 1 0
    COL3A1 Genopedia 1 0
    TNIP1 Genopedia 1 0
    CRTAP Genopedia 1 0
    SEMA4D Genopedia 1 0
    CETP Genopedia 1 0
    HPSE Genopedia 1 0
    WDHD1 Genopedia 1 0
    KLF12 Genopedia 1 0
    RPUSD1 Genopedia 1 0
    PLCD3 Genopedia 1 0
    IFNL4 Genopedia 1 0
    PPARGC1B Genopedia 1 0
    COX8A Genopedia 1 0
    COX15 Genopedia 1 0
    CTSK Genopedia 1 1
    CYP2C9 Genopedia 1 0
    CYP3A4 Genopedia 1 0
    CYP3A5 Genopedia 1 0
    CYP19A1 Genopedia 1 0
    CYP26A1 Genopedia 1 0
    ACE Genopedia 1 0
    RBM46 Genopedia 1 0
    GLIS3 Genopedia 1 0
    C10orf128 Genopedia 1 0
    DIO2 Genopedia 1 0
    ACAN Genopedia 1 0
    AGT Genopedia 1 0
    EP300 Genopedia 1 0
    EPAS1 Genopedia 1 0
    EDNRB Genopedia 1 0
    EFNA4 Genopedia 1 0
    VCAN Genopedia 1 1
    CRS Genopedia 1 0
    FGF3 Genopedia 1 0
    FGF12 Genopedia 1 0
    IL28B Genopedia 1 0
    PNPLA1 Genopedia 1 0
    GPX1 Genopedia 1 0
    GPX4 Genopedia 1 0
    GRB10 Genopedia 1 0
    HABP2 Genopedia 1 0
    HHEX Genopedia 1 0
    HLA-DRB1 Genopedia 1 0
    HLA-E Genopedia 1 0
    HLA-G Genopedia 1 0
    HES1 Genopedia 1 0
    HSPA1L Genopedia 1 0
    APOB Genopedia 1 0
    COL6A4P1 Genopedia 1 0
    KIF24 Genopedia 1 0
    SEMA7A Genopedia 1 0
    ATG4C Genopedia 1 0
    C7orf49 Genopedia 1 0
    ZFHX4 Genopedia 1 0
    LHX3 Genopedia 1 0
    ADAM12 Genopedia 1 0
    MFAP5 Genopedia 1 0
    CLPTM1L Genopedia 1 0
    GPR101 Genopedia 1 0
    UNC5C Genopedia 1 0
    PTCH2 Genopedia 1 0
    HESX1 Genopedia 1 0
    NRP2 Genopedia 1 0
    KAT2B Genopedia 1 0
    LHX4 Genopedia 1 0
    AIP Genopedia 1 0
    PSTPIP2 Genopedia 1 0
    GPRC5A Genopedia 1 0
    SEP15 Genopedia 1 0
    EIF2AK3 Genopedia 1 0
    TBX4 Genopedia 1 0
    ADAMTS1 Genopedia 1 0
    POLR1C Genopedia 1 0
    LPIN2 Genopedia 1 0
    KIAA0415 Genopedia 1 0
    CACNA1C Genopedia 1 0
    TRPS1 Genopedia 1 0
    TSHB Genopedia 1 0
    TTF1 Genopedia 1 0
    BMP1 Genopedia 1 0
    TGFBR3 Genopedia 1 0
    THRB Genopedia 1 0
    TNF Genopedia 1 0
    TP53 Genopedia 1 0
    PTHLH Genopedia 1 0
    ARID1B Genopedia 1 0
    SHROOM3 Genopedia 1 0
    PTPN1 Genopedia 1 0
    PTPN11 Genopedia 1 0
    ACTA2 Genopedia 1 0
    RARA Genopedia 1 0
    RARB Genopedia 1 0
    RARG Genopedia 1 0
    TRPV4 Genopedia 1 0
    ROBO1 Genopedia 1 0
    TRAPPC2 Genopedia 1 0
    NOD2 Genopedia 1 0
    RHBDF1 Genopedia 1 0
    NSD1 Genopedia 1 0
    SHH Genopedia 1 0
    TLR9 Genopedia 1 0
    POU1F1 Genopedia 1 0
    TERT Genopedia 1 0
    TFAP2A Genopedia 1 0
    TGFB2 Genopedia 1 0
    TGFB3 Genopedia 1 0
    ABCC8 Genopedia 1 0
    TACR1 Genopedia 1 0
    TBX2 Genopedia 1 0
    TCF7L2 Genopedia 1 0
    BMPR2 Genopedia 1 0
    SOS1 Genopedia 1 0
    SPP1 Genopedia 1 0
    SRI Genopedia 1 0
    BRAF 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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