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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Chromosome Disorders

323 genes has been reported with Chromosome Disorders
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Associated Gene
Total Publication
Meta-analysis Publication
    FMR1 Genopedia 79 2
    MTHFR Genopedia 60 8
    MTRR Genopedia 23 5
    FRAXA Genopedia 21 0
    APOE Genopedia 19 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
    BHMT Genopedia 5 1
    SLC19A1 Genopedia 5 2
    JAK2 Genopedia 5 0
    MTHFD1 Genopedia 5 1
    TCN2 Genopedia 4 1
    SHH Genopedia 4 0
    BDNF Genopedia 4 0
    GATA1 Genopedia 4 0
    GTF2I Genopedia 4 0
    GSTM1 Genopedia 4 0
    F5 Genopedia 4 0
    F2 Genopedia 3 0
    ELN Genopedia 3 0
    ESR1 Genopedia 3 0
    CDKN1C Genopedia 3 1
    COMT Genopedia 3 0
    IGF2 Genopedia 3 0
    IGFBP3 Genopedia 3 0
    IL6 Genopedia 3 0
    NIPBL Genopedia 3 0
    GLI2 Genopedia 3 0
    TNF Genopedia 3 0
    TP53 Genopedia 3 0
    VDR Genopedia 3 0
    CRELD1 Genopedia 3 0
    GH1 Genopedia 3 0
    KRAS Genopedia 3 0
    MAOA Genopedia 3 0
    MECP2 Genopedia 2 0
    KCNH2 Genopedia 2 0
    MYO9B Genopedia 2 0
    KIT Genopedia 2 0
    AZF1 Genopedia 2 0
    SERPINA1 Genopedia 2 0
    RET Genopedia 2 0
    HDAC8 Genopedia 2 0
    PTPN1 Genopedia 2 0
    PSEN1 Genopedia 2 0
    SMC1A Genopedia 2 0
    PICALM Genopedia 2 0
    TYMS Genopedia 2 0
    RUNX1 Genopedia 2 0
    SMC3 Genopedia 2 0
    CRLF2 Genopedia 2 0
    SIM1 Genopedia 2 0
    SIM2 Genopedia 2 0
    SIX3 Genopedia 2 0
    SLC6A4 Genopedia 2 0
    SORL1 Genopedia 2 0
    TBX1 Genopedia 2 0
    FGFR1 Genopedia 2 0
    FLT3 Genopedia 2 0
    PTPN22 Genopedia 2 0
    GATA4 Genopedia 2 0
    AFF2 Genopedia 2 0
    IL10 Genopedia 2 0
    APP Genopedia 2 0
    GSTP1 Genopedia 2 0
    GSTT1 Genopedia 2 0
    HLA-DRB1 Genopedia 2 0
    APOB Genopedia 2 0
    CREBBP Genopedia 2 0
    NKX2-5 Genopedia 2 0
    KCNQ1OT1 Genopedia 2 0
    DAZ1 Genopedia 2 0
    COL6A2 Genopedia 2 1
    ETS2 Genopedia 2 0
    DNMT3B Genopedia 2 0
    DHFR Genopedia 2 0
    DMPK Genopedia 2 0
    EDNRB Genopedia 2 0
    PLAC4 Genopedia 2 1
    NRXN1 Genopedia 2 0
    CD33 Genopedia 1 0
    FXR2 Genopedia 1 0
    CD38 Genopedia 1 0
    MAGI2 Genopedia 1 0
    KCNE2 Genopedia 1 0
    Ptn Genopedia 1 0
    EIF4A1 Genopedia 1 0
    DMRT1 Genopedia 1 0
    DNAH9 Genopedia 1 0
    DYNC1H1 Genopedia 1 0
    DYNC1I2 Genopedia 1 0
    DNMT1 Genopedia 1 0
    ABAT Genopedia 1 0
    DRD4 Genopedia 1 0
    JAG1 Genopedia 1 0
    ATN1 Genopedia 1 0
    DSCAM Genopedia 1 0
    DYRK1A Genopedia 1 0
    AGTR2 Genopedia 1 0
    EBF1 Genopedia 1 0
    EDN3 Genopedia 1 0
    EYA1 Genopedia 1 0
    FBLN2 Genopedia 1 0
    FGF3 Genopedia 1 0
    FGF8 Genopedia 1 0
    FGF9 Genopedia 1 0
    ASXL1 Genopedia 1 0
    ESR2 Genopedia 1 0
    ENG Genopedia 1 0
    EP300 Genopedia 1 0
    EPHA1 Genopedia 1 0
    ERCC2 Genopedia 1 0
    AKT1 Genopedia 1 0
    GTF2A1L Genopedia 1 0
    WDHD1 Genopedia 1 0
    SEC63 Genopedia 1 0
    MRAP2 Genopedia 1 0
    PARK7 Genopedia 1 0
    CHRNA2 Genopedia 1 0
    CLU Genopedia 1 0
    TPH2 Genopedia 1 0
    RXFP2 Genopedia 1 0
    PLIN2 Genopedia 1 0
    TC2N Genopedia 1 0
    COL6A1 Genopedia 1 0
    IKZF1 Genopedia 1 0
    ABCA7 Genopedia 1 0
    PEMT Genopedia 1 1
    SLC9A6 Genopedia 1 0
    DEAF1 Genopedia 1 0
    PROCR Genopedia 1 0
    RAI1 Genopedia 1 0
    CFTR Genopedia 1 0
    EDDM3A Genopedia 1 0
    PPP1R1C Genopedia 1 0
    CYP2B6 Genopedia 1 0
    CYP2C19 Genopedia 1 0
    CYP17A1 Genopedia 1 0
    CYP19A1 Genopedia 1 0
    CD55 Genopedia 1 0
    GATA5 Genopedia 1 0
    CTCFL Genopedia 1 0
    RSS Genopedia 1 0
    CST3 Genopedia 1 0
    COX10 Genopedia 1 0
    CPS1 Genopedia 1 0
    CR1 Genopedia 1 0
    DUX4 Genopedia 1 0
    CYAT1 Genopedia 1 0
    SNUPN Genopedia 1 0
    IFNL4 Genopedia 1 0
    CDH13 Genopedia 1 0
    ICR1 Genopedia 1 1
    IDE Genopedia 1 0
    CDKL4 Genopedia 1 0
    IFNG Genopedia 1 0
    HOXA@ Genopedia 1 0
    HOXA1 Genopedia 1 0
    HSD17B3 Genopedia 1 0
    GUSB Genopedia 1 0
    DNMT3L Genopedia 1 0
    HD Genopedia 1 0
    NRG1 Genopedia 1 0
    HLA-DQA1 Genopedia 1 0
    GATA3 Genopedia 1 0
    GHRHR Genopedia 1 0
    GJB3 Genopedia 1 0
    IGF1R Genopedia 1 0
    IGH@ Genopedia 1 0
    IGHV@ Genopedia 1 0
    IL1A Genopedia 1 0
    IL1B Genopedia 1 0
    IL1RN Genopedia 1 0
    INHA Genopedia 1 0
    INPPL1 Genopedia 1 0
    INSL3 Genopedia 1 0
    TARDBP Genopedia 1 0
    FOS Genopedia 1 0
    CD2AP Genopedia 1 0
    BACE1 Genopedia 1 0
    C15orf2 Genopedia 1 0
    FXN Genopedia 1 0
    FTSJ1 Genopedia 1 0
    NELF Genopedia 1 0
    SETBP1 Genopedia 1 0
    CNTNAP2 Genopedia 1 0
    PRPF31 Genopedia 1 0
    FRZB Genopedia 1 0
    FSHB Genopedia 1 0
    FSHR Genopedia 1 0
    NR5A1 Genopedia 1 0
    BACE2 Genopedia 1 0
    GCK Genopedia 1 0
    GDI1 Genopedia 1 0
    AMH Genopedia 1 0
    FOXF1 Genopedia 1 0
    FLNA Genopedia 1 0
    BIN1 Genopedia 1 0
    GNRH1 Genopedia 1 0
    GNRHR Genopedia 1 0
    IL28B Genopedia 1 0
    KIAA1267 Genopedia 1 0
    DLL1 Genopedia 1 0
    GRB10 Genopedia 1 0
    ANKRD11 Genopedia 1 0
    HNF1A Genopedia 1 0
    BTG1 Genopedia 1 0
    TCN1 Genopedia 1 0
    SOS1 Genopedia 1 0
    SOS2 Genopedia 1 0
    SRD5A2 Genopedia 1 0
    STATH Genopedia 1 0
    STX1A Genopedia 1 0
    BUB1 Genopedia 1 0
    TERT Genopedia 1 0
    TFPI Genopedia 1 0
    TGFB1 Genopedia 1 0
    TGM1 Genopedia 1 1
    TIMP1 Genopedia 1 0
    TIMP3 Genopedia 1 0
    TLR2 Genopedia 1 0
    SHMT1 Genopedia 1 0
    SHMT2 Genopedia 1 0
    SDHA Genopedia 1 0
    SDHB Genopedia 1 0
    EDDM3B Genopedia 1 0
    MS4A6A Genopedia 1 0
    SRSF2 Genopedia 1 0
    ATXN1 Genopedia 1 0
    SCN5A Genopedia 1 0
    BRD2 Genopedia 1 0
    RXRA Genopedia 1 0
    KL Genopedia 1 0
    SOCS2 Genopedia 1 0
    NR1I2 Genopedia 1 0
    LHX4 Genopedia 1 0
    CDY1 Genopedia 1 0
    SOX7 Genopedia 1 0
    MCHR2 Genopedia 1 0
    KISS1R Genopedia 1 0
    DISP1 Genopedia 1 0
    PDXK Genopedia 1 1
    TPH1 Genopedia 1 0
    TRH Genopedia 1 0
    TSPYL1 Genopedia 1 0
    GOLGA8C Genopedia 1 0
    C7orf49 Genopedia 1 0
    PWRN1 Genopedia 1 0
    GALNT14 Genopedia 1 0
    CALCR Genopedia 1 1
    ADAMTS20 Genopedia 1 0
    EFHC2 Genopedia 1 0
    FXR1 Genopedia 1 0
    HMGA2 Genopedia 1 0
    SHARPIN Genopedia 1 0
    VHL Genopedia 1 0
    WT1 Genopedia 1 0
    XRCC1 Genopedia 1 0
    YWHAE Genopedia 1 0
    ZIC2 Genopedia 1 0
    LSL Genopedia 1 0
    USP7 Genopedia 1 0
    TWSG1 Genopedia 1 0
    DAZ2 Genopedia 1 0
    PTGDR Genopedia 1 0
    PTGS2 Genopedia 1 0
    TWF1 Genopedia 1 0
    ZFAT Genopedia 1 0
    RNF213 Genopedia 1 0
    MARK4 Genopedia 1 0
    PTPN11 Genopedia 1 0
    ALDH18A1 Genopedia 1 0
    RAD21 Genopedia 1 0
    RARA Genopedia 1 0
    PRKCSH Genopedia 1 0
    PKD1 Genopedia 1 0
    PKD2 Genopedia 1 0
    PMP22 Genopedia 1 0
    RIPK4 Genopedia 1 0
    TREM2 Genopedia 1 0
    PPBP Genopedia 1 1
    ACOXL Genopedia 1 0
    CPPED1 Genopedia 1 0
    CHDH Genopedia 1 1
    TMEM127 Genopedia 1 0
    PRL Genopedia 1 0
    PRNP Genopedia 1 0
    PRODH Genopedia 1 0
    PARD3 Genopedia 1 0
    MYOD1 Genopedia 1 0
    NDN Genopedia 1 0
    NDUFA4 Genopedia 1 0
    NDUFB3 Genopedia 1 0
    NFIX Genopedia 1 0
    NONO Genopedia 1 0
    NOS3 Genopedia 1 0
    NOTCH1 Genopedia 1 0
    NPHP1 Genopedia 1 0
    NRAS Genopedia 1 0
    ZNF295 Genopedia 1 0
    PAFAH1B1 Genopedia 1 0
    PAX5 Genopedia 1 0
    NTM Genopedia 1 0
    PDE1A Genopedia 1 0
    SUFU Genopedia 1 0
    KCNJ6 Genopedia 1 1
    ACAT1 Genopedia 1 0
    LCN2 Genopedia 1 0
    LDLR Genopedia 1 0
    LRP5 Genopedia 1 0
    ARSA Genopedia 1 0
    MAK Genopedia 1 0
    MAN2C1 Genopedia 1 0
    MEST Genopedia 1 0
    ATXN3 Genopedia 1 0
    MLL Genopedia 1 0
    MAT1A Genopedia 1 0
    MDM2 Genopedia 1 0
    MDM4 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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