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Phenopedia


Abnormalities, Multiple

467 genes has been reported with Abnormalities, Multiple
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Associated Gene
Total Publication
Meta-analysis Publication
    MTHFR Genopedia 57 8
    FBN1 Genopedia 29 1
    MTRR Genopedia 23 5
    APOE Genopedia 19 1
    MTR Genopedia 17 4
    RFC1 Genopedia 12 0
    CBS Genopedia 9 2
    PTPN11 Genopedia 8 0
    KRAS Genopedia 7 0
    CHD7 Genopedia 6 0
    WFS1 Genopedia 6 0
    DHCR7 Genopedia 6 0
    JAK2 Genopedia 6 0
    JAG1 Genopedia 5 0
    HRAS Genopedia 5 0
    SOS1 Genopedia 5 0
    BHMT Genopedia 5 1
    MTHFD1 Genopedia 5 1
    SLC19A1 Genopedia 5 2
    PTEN Genopedia 5 0
    BBS1 Genopedia 5 0
    IRF6 Genopedia 5 0
    PAX3 Genopedia 4 0
    NKX2-5 Genopedia 4 0
    TCN2 Genopedia 4 1
    BRAF Genopedia 4 0
    RAF1 Genopedia 4 0
    NSD1 Genopedia 4 0
    SOX10 Genopedia 4 0
    TNF Genopedia 4 0
    MITF Genopedia 4 0
    GATA1 Genopedia 4 0
    EDA Genopedia 4 1
    MAP2K1 Genopedia 4 0
    TGFBR1 Genopedia 4 0
    SHH Genopedia 4 0
    TGFBR2 Genopedia 4 0
    COMT Genopedia 4 0
    PTCH1 Genopedia 4 0
    MLL2 Genopedia 4 0
    ARID1B Genopedia 3 0
    IL6 Genopedia 3 0
    NIPBL Genopedia 3 0
    GH1 Genopedia 3 0
    TBX5 Genopedia 3 0
    SNAI2 Genopedia 3 0
    BBS2 Genopedia 3 0
    WNT10A Genopedia 3 0
    EDAR Genopedia 3 1
    ERCC8 Genopedia 3 0
    TBX1 Genopedia 3 0
    BLM Genopedia 3 0
    CRELD1 Genopedia 3 0
    TP63 Genopedia 3 0
    TP53 Genopedia 3 0
    TAZ Genopedia 3 1
    HOXA10 Genopedia 3 0
    GLI2 Genopedia 3 0
    EDNRB Genopedia 3 0
    IL10 Genopedia 3 0
    CDKN1C Genopedia 3 1
    FGFR1 Genopedia 3 0
    GHR Genopedia 3 0
    COL6A2 Genopedia 2 1
    DHFR Genopedia 2 0
    MYH7 Genopedia 2 0
    NOTCH1 Genopedia 2 0
    AHI1 Genopedia 2 0
    SIX3 Genopedia 2 0
    SMARCA2 Genopedia 2 0
    GRHL3 Genopedia 2 0
    PLAC4 Genopedia 2 1
    CREBBP Genopedia 2 0
    ERCC2 Genopedia 2 0
    MAP2K2 Genopedia 2 0
    PRODH Genopedia 2 0
    FGF10 Genopedia 2 0
    FOXE1 Genopedia 2 0
    TGFB1 Genopedia 2 0
    BBS4 Genopedia 2 0
    SIM1 Genopedia 2 0
    SMARCB1 Genopedia 2 0
    NRXN1 Genopedia 2 0
    ETS2 Genopedia 2 0
    DNMT3B Genopedia 2 0
    NRAS Genopedia 2 0
    PRKAR1A Genopedia 2 1
    ARID1A Genopedia 2 0
    YWHAE Genopedia 2 0
    APC Genopedia 2 0
    AR Genopedia 2 0
    ERCC6 Genopedia 2 0
    FLT3 Genopedia 2 0
    BBS9 Genopedia 2 0
    GSTM1 Genopedia 2 0
    BBS7 Genopedia 2 0
    SMARCE1 Genopedia 2 0
    SUFU Genopedia 2 0
    HDAC8 Genopedia 2 0
    EDARADD Genopedia 2 1
    CEBPB Genopedia 2 0
    ALMS1 Genopedia 2 0
    SMC1A Genopedia 2 0
    SORL1 Genopedia 2 0
    FANCC Genopedia 2 0
    CRLF2 Genopedia 2 0
    KCNQ1OT1 Genopedia 2 0
    IGF2 Genopedia 2 0
    RIT1 Genopedia 2 0
    NHLH1 Genopedia 2 0
    FGFR2 Genopedia 2 0
    SMARCA4 Genopedia 2 0
    WNT4 Genopedia 2 0
    PICALM Genopedia 2 0
    CEP290 Genopedia 2 0
    SMC3 Genopedia 2 0
    CTNNB1 Genopedia 2 0
    NPHP1 Genopedia 2 0
    SIM2 Genopedia 2 0
    APP Genopedia 2 0
    BBS10 Genopedia 2 0
    ZFHX4 Genopedia 2 0
    MFAP5 Genopedia 1 0
    NF1 Genopedia 1 0
    ITGA8 Genopedia 1 0
    CD33 Genopedia 1 0
    TCN1 Genopedia 1 0
    TFPI Genopedia 1 0
    TRH Genopedia 1 0
    WNT9B Genopedia 1 0
    ACTA2 Genopedia 1 0
    CDH23 Genopedia 1 0
    PI4KA Genopedia 1 0
    STX18 Genopedia 1 0
    PMP22 Genopedia 1 0
    POLG Genopedia 1 0
    WDR60 Genopedia 1 0
    UGGT2 Genopedia 1 0
    INSR Genopedia 1 0
    CAPN10 Genopedia 1 0
    CCR5 Genopedia 1 0
    BBS5 Genopedia 1 0
    CYP2C9 Genopedia 1 0
    CYP3A4 Genopedia 1 0
    CYP19A1 Genopedia 1 0
    DLX3 Genopedia 1 0
    DYRK1A Genopedia 1 0
    TRIM32 Genopedia 1 0
    FLG Genopedia 1 0
    GJB3 Genopedia 1 0
    KIAA1267 Genopedia 1 0
    MNX1 Genopedia 1 0
    KIF24 Genopedia 1 0
    DNAH1 Genopedia 1 0
    IFT172 Genopedia 1 0
    HIBCH Genopedia 1 0
    GGTLC1 Genopedia 1 0
    HMGA2 Genopedia 1 0
    PARP10 Genopedia 1 0
    CEP89 Genopedia 1 0
    PTCH2 Genopedia 1 0
    PRNP Genopedia 1 0
    C5orf42 Genopedia 1 0
    SLC6A4 Genopedia 1 0
    BTG1 Genopedia 1 0
    TGM1 Genopedia 1 1
    KDM6A Genopedia 1 0
    ZIC2 Genopedia 1 0
    USP7 Genopedia 1 0
    RAB7A Genopedia 1 0
    TTC21B Genopedia 1 0
    CALCR Genopedia 1 1
    FLNA Genopedia 1 0
    BACE1 Genopedia 1 0
    HOXA@ Genopedia 1 0
    ICR1 Genopedia 1 1
    IDE Genopedia 1 0
    APOC3 Genopedia 1 0
    IGHV@ Genopedia 1 0
    CYP4F3 Genopedia 1 0
    NOS3 Genopedia 1 0
    PAFAH1B1 Genopedia 1 0
    PLEC Genopedia 1 0
    EDA2R Genopedia 1 1
    PRDM16 Genopedia 1 0
    HCN4 Genopedia 1 0
    USH1C Genopedia 1 0
    ABCA7 Genopedia 1 0
    PEMT Genopedia 1 1
    SLC9A6 Genopedia 1 0
    IGF2BP2 Genopedia 1 0
    MPP7 Genopedia 1 0
    CYP17A1 Genopedia 1 0
    RBM46 Genopedia 1 0
    EBF1 Genopedia 1 0
    ABCA1 Genopedia 1 0
    EPHA1 Genopedia 1 0
    ERCC3 Genopedia 1 0
    ESR2 Genopedia 1 0
    FGF3 Genopedia 1 0
    FGFR3 Genopedia 1 0
    IL1B Genopedia 1 0
    LDLR Genopedia 1 0
    MFAP4 Genopedia 1 0
    GJB4 Genopedia 1 0
    GATA5 Genopedia 1 0
    ABCB6 Genopedia 1 0
    CDKN2B Genopedia 1 0
    FBN2 Genopedia 1 0
    HEPACAM Genopedia 1 0
    TNFRSF13B Genopedia 1 0
    ABHD12 Genopedia 1 0
    NPHP4 Genopedia 1 0
    GATA4 Genopedia 1 0
    AMH Genopedia 1 0
    AMPD1 Genopedia 1 0
    B9D1 Genopedia 1 0
    DLL1 Genopedia 1 0
    GUSB Genopedia 1 0
    APOB Genopedia 1 0
    PCDH15 Genopedia 1 0
    RMRP Genopedia 1 0
    PARD3 Genopedia 1 0
    MYO9B Genopedia 1 0
    NFIX Genopedia 1 0
    NONO Genopedia 1 0
    NTRK3 Genopedia 1 0
    CISD2 Genopedia 1 0
    PBX1 Genopedia 1 0
    PIK3CA Genopedia 1 0
    BRCA1 Genopedia 1 0
    BRCA2 Genopedia 1 0
    ACTC1 Genopedia 1 0
    RUNX1 Genopedia 1 0
    WNT7A Genopedia 1 0
    GALNT14 Genopedia 1 0
    PHOX2B Genopedia 1 0
    TRIM8 Genopedia 1 0
    PDXK Genopedia 1 1
    GPRC5A Genopedia 1 0
    GJB6 Genopedia 1 0
    MRAP2 Genopedia 1 0
    EDN3 Genopedia 1 0
    ZBTB20 Genopedia 1 0
    TTC8 Genopedia 1 0
    SPATA17 Genopedia 1 0
    DISC1 Genopedia 1 0
    GNRH1 Genopedia 1 0
    GPR35 Genopedia 1 0
    HOXA11 Genopedia 1 0
    IGF1R Genopedia 1 0
    IL1A Genopedia 1 0
    KCNH2 Genopedia 1 0
    PRL Genopedia 1 0
    SCN5A Genopedia 1 0
    VPS11 Genopedia 1 0
    MYH6 Genopedia 1 0
    MYL3 Genopedia 1 0
    NOTCH2 Genopedia 1 0
    TNIP1 Genopedia 1 0
    TFAP2A Genopedia 1 0
    TYMS Genopedia 1 0
    MESP1 Genopedia 1 0
    PSEN1 Genopedia 1 0
    PEO1 Genopedia 1 0
    TWSG1 Genopedia 1 0
    PTCH Genopedia 1 0
    ALDH18A1 Genopedia 1 0
    RAB5A Genopedia 1 0
    RAD21 Genopedia 1 0
    GSTT1 Genopedia 1 0
    HHEX Genopedia 1 0
    BIN1 Genopedia 1 0
    ASTN2 Genopedia 1 0
    BACE2 Genopedia 1 0
    FGF8 Genopedia 1 0
    IFNL4 Genopedia 1 0
    CDKN2A Genopedia 1 0
    CETP Genopedia 1 0
    NXNL1 Genopedia 1 0
    CLCN5 Genopedia 1 0
    CLU Genopedia 1 0
    TC2N Genopedia 1 0
    USH1G Genopedia 1 0
    COX15 Genopedia 1 0
    CPS1 Genopedia 1 0
    FREM1 Genopedia 1 0
    ACE Genopedia 1 0
    SLC30A8 Genopedia 1 0
    DLG2 Genopedia 1 0
    DYNC1I2 Genopedia 1 0
    DNMT1 Genopedia 1 0
    ACSF3 Genopedia 1 0
    MAT1A Genopedia 1 0
    NMB Genopedia 1 0
    TREM2 Genopedia 1 0
    FREM2 Genopedia 1 0
    INSL3 Genopedia 1 0
    S100A8 Genopedia 1 0
    RTN4R Genopedia 1 0
    TGFB3 Genopedia 1 0
    TNNT2 Genopedia 1 0
    TRIO Genopedia 1 0
    WDR34 Genopedia 1 0
    HAND1 Genopedia 1 0
    KIAA0586 Genopedia 1 0
    PWRN1 Genopedia 1 0
    CCDC28B Genopedia 1 0
    IFT74 Genopedia 1 0
    SHOC2 Genopedia 1 0
    SHARPIN Genopedia 1 0
    EPPK1 Genopedia 1 0
    PHF6 Genopedia 1 0
    UNC5C Genopedia 1 0
    ADAM18 Genopedia 1 0
    FGF18 Genopedia 1 0
    NRP1 Genopedia 1 0
    TMEM67 Genopedia 1 0
    KIAA0415 Genopedia 1 0
    GPR126 Genopedia 1 0
    TMEM27 Genopedia 1 0
    PEX2 Genopedia 1 0
    SRD5A2 Genopedia 1 0
    STATH Genopedia 1 0
    TGFB2 Genopedia 1 0
    TNNC1 Genopedia 1 0
    TPM1 Genopedia 1 0
    TRAF6 Genopedia 1 1
    WNT10B Genopedia 1 0
    DYNC2H1 Genopedia 1 0
    FRAS1 Genopedia 1 0
    MKKS Genopedia 1 0
    ZNF295 Genopedia 1 0
    PAX5 Genopedia 1 0
    PDE11A Genopedia 1 0
    PIK3C3 Genopedia 1 0
    CDKAL1 Genopedia 1 0
    MKS1 Genopedia 1 0
    DRD4 Genopedia 1 0
    AGT Genopedia 1 0
    MYL2 Genopedia 1 0
    NDN Genopedia 1 0
    HOXA13 Genopedia 1 0
    CDKL4 Genopedia 1 0
    IGF1 Genopedia 1 0
    KCNJ6 Genopedia 1 1
    ACAT1 Genopedia 1 0
    LCAT Genopedia 1 0
    SMAD3 Genopedia 1 0
    MECP2 Genopedia 1 0
    MEST Genopedia 1 0
    C15orf2 Genopedia 1 0
    FLRT3 Genopedia 1 0
    ASPM Genopedia 1 0
    GATA3 Genopedia 1 0
    GJB2 Genopedia 1 0
    PNPLA1 Genopedia 1 0
    SLC25A4 Genopedia 1 0
    ZDHHC8 Genopedia 1 0
    IKZF1 Genopedia 1 0
    SPINT2 Genopedia 1 0
    CFTR Genopedia 1 0
    LDB3 Genopedia 1 0
    WDHD1 Genopedia 1 0
    A2ML1 Genopedia 1 0
    ESCO2 Genopedia 1 0
    CYP3A5 Genopedia 1 0
    DAB1 Genopedia 1 0
    C10orf128 Genopedia 1 0
    MAGI2 Genopedia 1 0
    RET Genopedia 1 0
    SCN9A Genopedia 1 0
    SHMT1 Genopedia 1 0
    ACTG2 Genopedia 1 0
    XRCC1 Genopedia 1 0
    SF1 Genopedia 1 0
    FTO Genopedia 1 0
    RMI1 Genopedia 1 0
    GRIP1 Genopedia 1 0
    PCSK9 Genopedia 1 0
    GBP3 Genopedia 1 0
    GLI3 Genopedia 1 0
    ANKRD11 Genopedia 1 0
    GSTP1 Genopedia 1 0
    HES1 Genopedia 1 0
    HSPA1L Genopedia 1 0
    KCNQ1 Genopedia 1 0
    MDM4 Genopedia 1 0
    MID1 Genopedia 1 0
    RNF213 Genopedia 1 0
    ANKH Genopedia 1 0
    MUTYH Genopedia 1 0
    NEK1 Genopedia 1 0
    DGCR8 Genopedia 1 0
    GNB1L Genopedia 1 0
    PPBP Genopedia 1 1
    ESR1 Genopedia 1 0
    EYA1 Genopedia 1 0
    ALDH2 Genopedia 1 0
    FBLN2 Genopedia 1 0
    MACROD2 Genopedia 1 0
    RSS Genopedia 1 0
    EP300 Genopedia 1 0
    CD55 Genopedia 1 0
    DNMT3A Genopedia 1 0
    DSCAM Genopedia 1 0
    SLC25A13 Genopedia 1 0
    CD96 Genopedia 1 0
    PROCR Genopedia 1 0
    RAI1 Genopedia 1 0
    RARA Genopedia 1 0
    RXRA Genopedia 1 0
    MS4A6A Genopedia 1 0
    RHBDF1 Genopedia 1 0
    SHMT2 Genopedia 1 0
    TCF20 Genopedia 1 0
    TERT Genopedia 1 0
    TGFBR3 Genopedia 1 0
    ACTG1 Genopedia 1 0
    TNNI3 Genopedia 1 0
    TWIST1 Genopedia 1 0
    C7orf49 Genopedia 1 0
    GALNT12 Genopedia 1 0
    CLPTM1L Genopedia 1 0
    ARL6 Genopedia 1 0
    MCHR2 Genopedia 1 0
    DISP1 Genopedia 1 0
    FBXW7 Genopedia 1 0
    CHDH Genopedia 1 1
    PTGDR Genopedia 1 0
    MIB1 Genopedia 1 0
    CC2D2A Genopedia 1 0
    MARK4 Genopedia 1 0
    WAC Genopedia 1 0
    RIPK4 Genopedia 1 0
    MYLK Genopedia 1 0
    MYO7A Genopedia 1 0
    NDUFB3 Genopedia 1 0
    ENG Genopedia 1 0
    JAG2 Genopedia 1 0
    LCN2 Genopedia 1 0
    LOR Genopedia 1 0
    ARSA Genopedia 1 0
    MC1R Genopedia 1 0
    MDM2 Genopedia 1 0
    MLL Genopedia 1 0
    MSX1 Genopedia 1 0
    MYBPC3 Genopedia 1 0
    COL9A1 Genopedia 1 0
    CPO Genopedia 1 0
    CR1 Genopedia 1 0
    CTCFL Genopedia 1 0
    CST3 Genopedia 1 0
    DEAF1 Genopedia 1 0
    RPUSD1 Genopedia 1 0
    TPH2 Genopedia 1 0
    COL6A1 Genopedia 1 0
    GJA1 Genopedia 1 0
    IL28B Genopedia 1 0
    IFNG Genopedia 1 0
    IL1RN Genopedia 1 0
    FOXF1 Genopedia 1 0
    HEY1 Genopedia 1 0
    CD2AP Genopedia 1 0
    FRZB Genopedia 1 0
    GALT Genopedia 1 0
    GREM1 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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