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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Chromosome Disorders

304 genes has been reported with Chromosome Disorders
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Associated Gene
Total Publication
Meta-analysis Publication
    FMR1 Genopedia 77 2
    MTHFR Genopedia 57 8
    FRAXA Genopedia 21 0
    MTRR Genopedia 21 5
    APOE Genopedia 18 1
    MTR Genopedia 17 4
    AR Genopedia 13 0
    RFC1 Genopedia 12 0
    GHR Genopedia 9 0
    CBS Genopedia 8 2
    FRAXE Genopedia 6 0
    SLC19A1 Genopedia 5 2
    BHMT Genopedia 5 1
    MTHFD1 Genopedia 5 1
    JAK2 Genopedia 5 0
    SHH Genopedia 4 0
    F5 Genopedia 4 0
    GATA1 Genopedia 4 0
    TCN2 Genopedia 4 1
    GSTM1 Genopedia 4 0
    F2 Genopedia 3 0
    CRELD1 Genopedia 3 0
    GLI2 Genopedia 3 0
    BDNF Genopedia 3 0
    GTF2I Genopedia 3 0
    VDR Genopedia 3 0
    ELN Genopedia 3 0
    CDKN1C Genopedia 3 1
    KRAS Genopedia 3 0
    TNF Genopedia 3 0
    NIPBL Genopedia 3 0
    GH1 Genopedia 2 0
    COMT Genopedia 2 0
    SIM2 Genopedia 2 0
    SLC6A4 Genopedia 2 0
    AFF2 Genopedia 2 0
    PICALM Genopedia 2 0
    SMC3 Genopedia 2 0
    TYMS Genopedia 2 0
    TBX1 Genopedia 2 0
    HDAC8 Genopedia 2 0
    KCNH2 Genopedia 2 0
    MAOA Genopedia 2 0
    SERPINA1 Genopedia 2 0
    CRLF2 Genopedia 2 0
    SORL1 Genopedia 2 0
    SMC1A Genopedia 2 0
    HLA-DRB1 Genopedia 2 0
    APOB Genopedia 2 0
    IGF2 Genopedia 2 0
    GATA4 Genopedia 2 0
    COL6A2 Genopedia 2 1
    DAZ1 Genopedia 2 0
    DHFR Genopedia 2 0
    SIX3 Genopedia 2 0
    FGFR1 Genopedia 2 0
    CREBBP Genopedia 2 0
    NKX2-5 Genopedia 2 0
    GSTP1 Genopedia 2 0
    RET Genopedia 2 0
    DMPK Genopedia 2 0
    EDNRB Genopedia 2 0
    PLAC4 Genopedia 2 1
    ESR1 Genopedia 2 0
    NRXN1 Genopedia 2 0
    MECP2 Genopedia 2 0
    DNMT3B Genopedia 2 0
    ETS2 Genopedia 2 0
    AZF1 Genopedia 2 0
    TP53 Genopedia 2 0
    PSEN1 Genopedia 2 0
    IGFBP3 Genopedia 2 0
    GSTT1 Genopedia 2 0
    FLT3 Genopedia 2 0
    FSHB Genopedia 1 0
    BACE2 Genopedia 1 0
    SETBP1 Genopedia 1 0
    PTPN22 Genopedia 1 0
    BIN1 Genopedia 1 0
    HD Genopedia 1 0
    HLA-DQA1 Genopedia 1 0
    DUX4 Genopedia 1 0
    IFNL4 Genopedia 1 0
    GTF2A1L Genopedia 1 0
    SEC63 Genopedia 1 0
    PARK7 Genopedia 1 0
    CLU Genopedia 1 0
    TC2N Genopedia 1 0
    CPS1 Genopedia 1 0
    DNAH9 Genopedia 1 0
    DYNC1I2 Genopedia 1 0
    INSL3 Genopedia 1 0
    FGF8 Genopedia 1 0
    ATXN3 Genopedia 1 0
    NTM Genopedia 1 0
    TREM2 Genopedia 1 0
    CPPED1 Genopedia 1 0
    TWSG1 Genopedia 1 0
    ALDH18A1 Genopedia 1 0
    RAD21 Genopedia 1 0
    BRD2 Genopedia 1 0
    TPH1 Genopedia 1 0
    YWHAE Genopedia 1 0
    PWRN1 Genopedia 1 0
    SHARPIN Genopedia 1 0
    SOX7 Genopedia 1 0
    KISS1R Genopedia 1 0
    FXR2 Genopedia 1 0
    ADAMTS20 Genopedia 1 0
    EFHC2 Genopedia 1 0
    CD38 Genopedia 1 0
    SDHA Genopedia 1 0
    SRD5A2 Genopedia 1 0
    STATH Genopedia 1 0
    TIMP3 Genopedia 1 0
    NDN Genopedia 1 0
    NRAS Genopedia 1 0
    ZNF295 Genopedia 1 0
    PAX5 Genopedia 1 0
    PKD2 Genopedia 1 0
    C15orf2 Genopedia 1 0
    NELF Genopedia 1 0
    GATA3 Genopedia 1 0
    ABAT Genopedia 1 0
    DRD4 Genopedia 1 0
    ATN1 Genopedia 1 0
    EIF4A1 Genopedia 1 0
    MEST Genopedia 1 0
    KCNJ6 Genopedia 1 1
    ACAT1 Genopedia 1 0
    HSD17B3 Genopedia 1 0
    CDKL4 Genopedia 1 0
    IKZF1 Genopedia 1 0
    CFTR Genopedia 1 0
    WDHD1 Genopedia 1 0
    MAGI2 Genopedia 1 0
    EYA1 Genopedia 1 0
    FBLN2 Genopedia 1 0
    NR5A1 Genopedia 1 0
    GNRHR Genopedia 1 0
    ANKRD11 Genopedia 1 0
    EP300 Genopedia 1 0
    ERCC2 Genopedia 1 0
    AKT1 Genopedia 1 0
    DMRT1 Genopedia 1 0
    DSCAM Genopedia 1 0
    AGTR2 Genopedia 1 0
    CYAT1 Genopedia 1 0
    PROCR Genopedia 1 0
    RAI1 Genopedia 1 0
    PLIN2 Genopedia 1 0
    SHMT1 Genopedia 1 0
    SIM1 Genopedia 1 0
    BUB1 Genopedia 1 0
    XRCC1 Genopedia 1 0
    SOCS2 Genopedia 1 0
    CDY1 Genopedia 1 0
    CD55 Genopedia 1 0
    MAK Genopedia 1 0
    MDM4 Genopedia 1 0
    PKD1 Genopedia 1 0
    PPBP Genopedia 1 1
    PRKCSH Genopedia 1 0
    PRODH Genopedia 1 0
    RNF213 Genopedia 1 0
    FOXF1 Genopedia 1 0
    SNUPN Genopedia 1 0
    STX1A Genopedia 1 0
    TERT Genopedia 1 0
    TSPYL1 Genopedia 1 0
    C7orf49 Genopedia 1 0
    FXR1 Genopedia 1 0
    DISP1 Genopedia 1 0
    NR1I2 Genopedia 1 0
    KCNE2 Genopedia 1 0
    IL28B Genopedia 1 0
    DNMT3L Genopedia 1 0
    IFNG Genopedia 1 0
    IL1RN Genopedia 1 0
    IL10 Genopedia 1 0
    RXRA Genopedia 1 0
    EDDM3B Genopedia 1 0
    MS4A6A Genopedia 1 0
    SHMT2 Genopedia 1 0
    ENG Genopedia 1 0
    CD2AP Genopedia 1 0
    FRZB Genopedia 1 0
    CNTNAP2 Genopedia 1 0
    GDI1 Genopedia 1 0
    COX10 Genopedia 1 0
    CR1 Genopedia 1 0
    CTCFL Genopedia 1 0
    DEAF1 Genopedia 1 0
    TPH2 Genopedia 1 0
    RXFP2 Genopedia 1 0
    COL6A1 Genopedia 1 0
    LCN2 Genopedia 1 0
    LRP5 Genopedia 1 0
    ARSA Genopedia 1 0
    MDM2 Genopedia 1 0
    MLL Genopedia 1 0
    MYOD1 Genopedia 1 0
    NDUFA4 Genopedia 1 0
    NDUFB3 Genopedia 1 0
    NOTCH1 Genopedia 1 0
    PDE1A Genopedia 1 0
    RIPK4 Genopedia 1 0
    CHDH Genopedia 1 1
    DAZ2 Genopedia 1 0
    PTGDR Genopedia 1 0
    RARA Genopedia 1 0
    GCK Genopedia 1 0
    AMH Genopedia 1 0
    DLL1 Genopedia 1 0
    GUSB Genopedia 1 0
    EDDM3A Genopedia 1 0
    KCNQ1OT1 Genopedia 1 0
    GATA5 Genopedia 1 0
    DYNC1H1 Genopedia 1 0
    IL1B Genopedia 1 0
    LDLR Genopedia 1 0
    MYO9B Genopedia 1 0
    NFIX Genopedia 1 0
    NONO Genopedia 1 0
    PARD3 Genopedia 1 0
    PTPN11 Genopedia 1 0
    RUNX1 Genopedia 1 0
    KL Genopedia 1 0
    VHL Genopedia 1 0
    GALNT14 Genopedia 1 0
    FGF9 Genopedia 1 0
    FXN Genopedia 1 0
    SDHB Genopedia 1 0
    TMEM127 Genopedia 1 0
    SUFU Genopedia 1 0
    MAN2C1 Genopedia 1 0
    PRPF31 Genopedia 1 0
    GNRH1 Genopedia 1 0
    NRG1 Genopedia 1 0
    IL1A Genopedia 1 0
    MRAP2 Genopedia 1 0
    EDN3 Genopedia 1 0
    Ptn Genopedia 1 0
    TARDBP Genopedia 1 0
    FTSJ1 Genopedia 1 0
    PRL Genopedia 1 0
    SCN5A Genopedia 1 0
    HNF1A Genopedia 1 0
    TIMP1 Genopedia 1 0
    TLR2 Genopedia 1 0
    PDXK Genopedia 1 1
    LHX4 Genopedia 1 0
    BACE1 Genopedia 1 0
    NOS3 Genopedia 1 0
    PAFAH1B1 Genopedia 1 0
    PRNP Genopedia 1 0
    PTGS2 Genopedia 1 0
    TWF1 Genopedia 1 0
    BTG1 Genopedia 1 0
    TGM1 Genopedia 1 1
    WT1 Genopedia 1 0
    ZIC2 Genopedia 1 0
    USP7 Genopedia 1 0
    CALCR Genopedia 1 1
    HMGA2 Genopedia 1 0
    HOXA@ Genopedia 1 0
    HOXA1 Genopedia 1 0
    ICR1 Genopedia 1 1
    IDE Genopedia 1 0
    IGHV@ Genopedia 1 0
    INHA Genopedia 1 0
    KIT Genopedia 1 0
    ABCA7 Genopedia 1 0
    PEMT Genopedia 1 1
    SLC9A6 Genopedia 1 0
    PPP1R1C Genopedia 1 0
    CYP2B6 Genopedia 1 0
    CYP17A1 Genopedia 1 0
    EBF1 Genopedia 1 0
    EPHA1 Genopedia 1 0
    ESR2 Genopedia 1 0
    FGF3 Genopedia 1 0
    FLNA Genopedia 1 0
    SOS2 Genopedia 1 0
    TCN1 Genopedia 1 0
    TFPI Genopedia 1 0
    TRH Genopedia 1 0
    GOLGA8C Genopedia 1 0
    CD33 Genopedia 1 0
    NPHP1 Genopedia 1 0
    PMP22 Genopedia 1 0
    ACOXL Genopedia 1 0
    PTPN1 Genopedia 1 0
    ATXN1 Genopedia 1 0
    CYP19A1 Genopedia 1 0
    JAG1 Genopedia 1 0
    DYRK1A Genopedia 1 0
    FSHR Genopedia 1 0
    GJB3 Genopedia 1 0
    KIAA1267 Genopedia 1 0
    IGH@ Genopedia 1 0
    APP Genopedia 1 0
    CDH13 Genopedia 1 0
    CHRNA2 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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