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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Chromosome Disorders
329 genes has been reported with Chromosome Disorders
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Associated Gene
Total Publication
Meta-analysis Publication
    FMR1 Genopedia 83 2
    MTHFR Genopedia 61 9
    MTRR Genopedia 23 5
    FRAXA Genopedia 22 0
    APOE Genopedia 20 1
    MTR Genopedia 18 4
    AR Genopedia 14 0
    RFC1 Genopedia 12 0
    CBS Genopedia 9 2
    GHR Genopedia 9 0
    FRAXE Genopedia 6 0
    MTHFD1 Genopedia 5 1
    JAK2 Genopedia 5 0
    BHMT Genopedia 5 1
    SLC19A1 Genopedia 5 2
    GTF2I Genopedia 4 0
    F5 Genopedia 4 0
    GSTM1 Genopedia 4 0
    SHH Genopedia 4 0
    BDNF Genopedia 4 0
    TCN2 Genopedia 4 1
    GATA1 Genopedia 4 0
    COMT Genopedia 4 0
    APP Genopedia 4 0
    IGFBP3 Genopedia 3 0
    GLI2 Genopedia 3 0
    MAOA Genopedia 3 0
    IGF2 Genopedia 3 0
    TNF Genopedia 3 0
    APOB Genopedia 3 0
    KRAS Genopedia 3 0
    CRELD1 Genopedia 3 0
    GH1 Genopedia 3 0
    IL6 Genopedia 3 0
    F2 Genopedia 3 0
    NIPBL Genopedia 3 0
    TP53 Genopedia 3 0
    ELN Genopedia 3 0
    CDKN1C Genopedia 3 1
    VDR Genopedia 3 0
    ESR1 Genopedia 3 0
    EDNRB Genopedia 2 0
    PLAC4 Genopedia 2 1
    CREBBP Genopedia 2 0
    HDAC8 Genopedia 2 0
    NRXN1 Genopedia 2 0
    RET Genopedia 2 0
    CRLF2 Genopedia 2 0
    SIX3 Genopedia 2 0
    IL10 Genopedia 2 0
    MYO9B Genopedia 2 0
    SMC3 Genopedia 2 0
    DNMT3B Genopedia 2 0
    PTPN22 Genopedia 2 0
    FLT3 Genopedia 2 0
    PTPN1 Genopedia 2 0
    SIM2 Genopedia 2 0
    PSEN1 Genopedia 2 0
    AFF2 Genopedia 2 0
    KIT Genopedia 2 0
    PICALM Genopedia 2 0
    NDN Genopedia 2 0
    FGFR1 Genopedia 2 0
    SERPINA1 Genopedia 2 0
    TBX1 Genopedia 2 0
    GSTP1 Genopedia 2 0
    NKX2-5 Genopedia 2 0
    DMPK Genopedia 2 0
    GATA4 Genopedia 2 0
    HLA-DRB1 Genopedia 2 0
    SORL1 Genopedia 2 0
    SMC1A Genopedia 2 0
    RUNX1 Genopedia 2 0
    KCNQ1OT1 Genopedia 2 0
    COL6A2 Genopedia 2 1
    DAZ1 Genopedia 2 0
    DHFR Genopedia 2 0
    LDLR Genopedia 2 0
    TYMS Genopedia 2 0
    KCNH2 Genopedia 2 0
    SIM1 Genopedia 2 0
    MECP2 Genopedia 2 0
    AZF1 Genopedia 2 0
    ETS2 Genopedia 2 0
    SLC6A4 Genopedia 2 0
    GSTT1 Genopedia 2 0
    HLA-DQA1 Genopedia 1 0
    CDH13 Genopedia 1 0
    CHRNA2 Genopedia 1 0
    DYRK1A Genopedia 1 0
    BACE2 Genopedia 1 0
    GJB3 Genopedia 1 0
    IGH@ Genopedia 1 0
    INSL3 Genopedia 1 0
    ALDH18A1 Genopedia 1 0
    TCN1 Genopedia 1 0
    TFPI Genopedia 1 0
    SHARPIN Genopedia 1 0
    CD33 Genopedia 1 0
    STATH Genopedia 1 0
    BTG1 Genopedia 1 0
    TGM1 Genopedia 1 1
    UBE3A Genopedia 1 0
    ZIC2 Genopedia 1 0
    CD38 Genopedia 1 0
    ETV6 Genopedia 1 0
    FOS Genopedia 1 0
    NELF Genopedia 1 0
    CYP2B6 Genopedia 1 0
    CYP2C19 Genopedia 1 0
    CYP17A1 Genopedia 1 0
    EBF1 Genopedia 1 0
    TWF1 Genopedia 1 0
    SDHA Genopedia 1 0
    NRAS Genopedia 1 0
    PAFAH1B1 Genopedia 1 0
    IDE Genopedia 1 0
    IGHV@ Genopedia 1 0
    ACAT1 Genopedia 1 0
    BUB1 Genopedia 1 0
    TLR2 Genopedia 1 0
    MAK Genopedia 1 0
    INPPL1 Genopedia 1 0
    RAI1 Genopedia 1 0
    PLIN2 Genopedia 1 0
    DMRT1 Genopedia 1 0
    EDN3 Genopedia 1 0
    EP300 Genopedia 1 0
    EYA1 Genopedia 1 0
    TARDBP Genopedia 1 0
    XRCC1 Genopedia 1 0
    LHX4 Genopedia 1 0
    MAGI2 Genopedia 1 0
    PKD1 Genopedia 1 0
    PPBP Genopedia 1 1
    ZFAT Genopedia 1 0
    RNF213 Genopedia 1 0
    SCN5A Genopedia 1 0
    SHMT1 Genopedia 1 0
    LRP5 Genopedia 1 0
    ARSA Genopedia 1 0
    NDUFA4 Genopedia 1 0
    NFIX Genopedia 1 0
    NONO Genopedia 1 0
    PDE1A Genopedia 1 0
    RIPK4 Genopedia 1 0
    PARD3 Genopedia 1 0
    MARK4 Genopedia 1 0
    DYNC1H1 Genopedia 1 0
    FOXF1 Genopedia 1 0
    FXN Genopedia 1 0
    FRZB Genopedia 1 0
    COX10 Genopedia 1 0
    CR1 Genopedia 1 0
    GATA5 Genopedia 1 0
    KL Genopedia 1 0
    TSPYL1 Genopedia 1 0
    C7orf49 Genopedia 1 0
    IFNG Genopedia 1 0
    GCK Genopedia 1 0
    DLL1 Genopedia 1 0
    IL1B Genopedia 1 0
    SDHB Genopedia 1 0
    EDDM3B Genopedia 1 0
    AGTR2 Genopedia 1 0
    ERCC2 Genopedia 1 0
    FBLN2 Genopedia 1 0
    CD55 Genopedia 1 0
    CYAT1 Genopedia 1 0
    PROCR Genopedia 1 0
    IGF1R Genopedia 1 0
    IL1A Genopedia 1 0
    MDM4 Genopedia 1 0
    SERPINE1 Genopedia 1 0
    SUFU Genopedia 1 0
    PCSK9 Genopedia 1 0
    GNRH1 Genopedia 1 0
    GNRHR Genopedia 1 0
    HNF1A Genopedia 1 0
    TGFB1 Genopedia 1 0
    PDXK Genopedia 1 1
    SOCS2 Genopedia 1 0
    CNTNAP2 Genopedia 1 0
    AMH Genopedia 1 0
    GUSB Genopedia 1 0
    LCN2 Genopedia 1 0
    KCNE2 Genopedia 1 0
    NDUFB3 Genopedia 1 0
    DAZ2 Genopedia 1 0
    PTGDR Genopedia 1 0
    PTPN11 Genopedia 1 0
    RXRA Genopedia 1 0
    MS4A6A Genopedia 1 0
    VHL Genopedia 1 0
    LSL Genopedia 1 0
    FXR1 Genopedia 1 0
    SNUPN Genopedia 1 0
    DEAF1 Genopedia 1 0
    EDDM3A Genopedia 1 0
    TPH2 Genopedia 1 0
    RXFP2 Genopedia 1 0
    CST3 Genopedia 1 0
    ENG Genopedia 1 0
    FGF9 Genopedia 1 0
    ZNF295 Genopedia 1 0
    PAX5 Genopedia 1 0
    PRNP Genopedia 1 0
    PTGS2 Genopedia 1 0
    GATA3 Genopedia 1 0
    GRB10 Genopedia 1 0
    CDKL4 Genopedia 1 0
    IKZF1 Genopedia 1 0
    ABCA7 Genopedia 1 0
    SLC9A6 Genopedia 1 0
    CFTR Genopedia 1 0
    PPP1R1C Genopedia 1 0
    DRD4 Genopedia 1 0
    ATN1 Genopedia 1 0
    EPHA1 Genopedia 1 0
    ESR2 Genopedia 1 0
    FLNA Genopedia 1 0
    SOS1 Genopedia 1 0
    TIMP3 Genopedia 1 0
    EFHC2 Genopedia 1 0
    HMGA2 Genopedia 1 0
    TWSG1 Genopedia 1 0
    RAD21 Genopedia 1 0
    BRD2 Genopedia 1 0
    ATXN1 Genopedia 1 0
    SRSF2 Genopedia 1 0
    TPH1 Genopedia 1 0
    YWHAE Genopedia 1 0
    DUX4 Genopedia 1 0
    GTF2A1L Genopedia 1 0
    SEC63 Genopedia 1 0
    CLU Genopedia 1 0
    TC2N Genopedia 1 0
    CPS1 Genopedia 1 0
    DNAH9 Genopedia 1 0
    JAG1 Genopedia 1 0
    FGF8 Genopedia 1 0
    FSHR Genopedia 1 0
    SETBP1 Genopedia 1 0
    BIN1 Genopedia 1 0
    KIAA1267 Genopedia 1 0
    HD Genopedia 1 0
    FXR2 Genopedia 1 0
    MAT1A Genopedia 1 0
    ATXN3 Genopedia 1 0
    NTM Genopedia 1 0
    TREM2 Genopedia 1 0
    ACOXL Genopedia 1 0
    SOS2 Genopedia 1 0
    TRH Genopedia 1 0
    GOLGA8C Genopedia 1 0
    PWRN1 Genopedia 1 0
    SOX7 Genopedia 1 0
    KISS1R Genopedia 1 0
    FSHB Genopedia 1 0
    IFNL4 Genopedia 1 0
    PARK7 Genopedia 1 0
    CYP19A1 Genopedia 1 0
    DYNC1I2 Genopedia 1 0
    DNMT1 Genopedia 1 0
    NPHP1 Genopedia 1 0
    PMP22 Genopedia 1 0
    CPPED1 Genopedia 1 0
    GHRHR Genopedia 1 0
    GUCY2C Genopedia 1 0
    ABAT Genopedia 1 0
    EIF4A1 Genopedia 1 0
    FGF3 Genopedia 1 0
    BACE1 Genopedia 1 0
    C15orf2 Genopedia 1 0
    HOXA@ Genopedia 1 0
    HOXA1 Genopedia 1 0
    HSD17B3 Genopedia 1 0
    ICR1 Genopedia 1 1
    INHA Genopedia 1 0
    KCNJ6 Genopedia 1 1
    MC4R Genopedia 1 0
    MEST Genopedia 1 0
    NOS3 Genopedia 1 0
    PKD2 Genopedia 1 0
    SRD5A2 Genopedia 1 0
    PEMT Genopedia 1 1
    WDHD1 Genopedia 1 0
    ASXL1 Genopedia 1 0
    WT1 Genopedia 1 0
    USP7 Genopedia 1 0
    CALCR Genopedia 1 1
    ADAMTS20 Genopedia 1 0
    MYOD1 Genopedia 1 0
    NOTCH1 Genopedia 1 0
    CHDH Genopedia 1 1
    RARA Genopedia 1 0
    MDM2 Genopedia 1 0
    MLL Genopedia 1 0
    CD2AP Genopedia 1 0
    GDI1 Genopedia 1 0
    COL6A1 Genopedia 1 0
    CTCFL Genopedia 1 0
    IL28B Genopedia 1 0
    DNMT3L Genopedia 1 0
    IL1RN Genopedia 1 0
    STX1A Genopedia 1 0
    TERT Genopedia 1 0
    SHMT2 Genopedia 1 0
    GALNT14 Genopedia 1 0
    MCHR2 Genopedia 1 0
    DISP1 Genopedia 1 0
    NR1I2 Genopedia 1 0
    MRAP2 Genopedia 1 0
    TMEM127 Genopedia 1 0
    TIMP1 Genopedia 1 0
    CDY1 Genopedia 1 0
    PRKCSH Genopedia 1 0
    PRL Genopedia 1 0
    PRODH Genopedia 1 0
    RSS Genopedia 1 0
    DSCAM Genopedia 1 0
    NRG1 Genopedia 1 0
    MAN2C1 Genopedia 1 0
    Ptn Genopedia 1 0
    AKT1 Genopedia 1 0
    FTSJ1 Genopedia 1 0
    NR5A1 Genopedia 1 0
    PRPF31 Genopedia 1 0
    ANKRD11 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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