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Phenopedia


Abnormalities, Multiple

480 genes has been reported with Abnormalities, Multiple
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Associated Gene
Total Publication
Meta-analysis Publication
    MTHFR Genopedia 57 8
    FBN1 Genopedia 30 1
    MTRR Genopedia 23 5
    APOE Genopedia 20 1
    MTR Genopedia 17 4
    RFC1 Genopedia 12 0
    CBS Genopedia 9 2
    PTPN11 Genopedia 8 0
    KRAS Genopedia 8 0
    CHD7 Genopedia 7 0
    JAK2 Genopedia 6 0
    DHCR7 Genopedia 6 0
    WFS1 Genopedia 6 0
    BBS1 Genopedia 5 0
    BHMT Genopedia 5 1
    SLC19A1 Genopedia 5 2
    SOS1 Genopedia 5 0
    SHH Genopedia 5 0
    BRAF Genopedia 5 0
    TGFBR1 Genopedia 5 0
    TGFBR2 Genopedia 5 0
    JAG1 Genopedia 5 0
    IRF6 Genopedia 5 0
    MTHFD1 Genopedia 5 1
    HRAS Genopedia 5 0
    PTCH1 Genopedia 5 0
    PTEN Genopedia 5 0
    MAP2K1 Genopedia 4 0
    PAX3 Genopedia 4 0
    MITF Genopedia 4 0
    EDA Genopedia 4 1
    GATA1 Genopedia 4 0
    COMT Genopedia 4 0
    NKX2-5 Genopedia 4 0
    TCN2 Genopedia 4 1
    TP53 Genopedia 4 0
    SOX10 Genopedia 4 0
    NSD1 Genopedia 4 0
    RAF1 Genopedia 4 0
    TNF Genopedia 4 0
    MLL2 Genopedia 4 0
    WNT10A Genopedia 3 0
    CRELD1 Genopedia 3 0
    TP63 Genopedia 3 0
    BLM Genopedia 3 0
    BBS2 Genopedia 3 0
    SNAI2 Genopedia 3 0
    TBX1 Genopedia 3 0
    TAZ Genopedia 3 1
    TBX5 Genopedia 3 0
    EDAR Genopedia 3 1
    CDKN1C Genopedia 3 1
    ERCC8 Genopedia 3 0
    FGFR1 Genopedia 3 0
    NIPBL Genopedia 3 0
    GH1 Genopedia 3 0
    GHR Genopedia 3 0
    GLI2 Genopedia 3 0
    EDNRB Genopedia 3 0
    HOXA10 Genopedia 3 0
    APP Genopedia 3 0
    IL6 Genopedia 3 0
    IL10 Genopedia 3 0
    NRAS Genopedia 3 0
    ARID1B Genopedia 3 0
    MAP2K2 Genopedia 2 0
    PRODH Genopedia 2 0
    PRKAR1A Genopedia 2 1
    BBS7 Genopedia 2 0
    HDAC8 Genopedia 2 0
    WNT4 Genopedia 2 0
    AHI1 Genopedia 2 0
    SUFU Genopedia 2 0
    NOTCH1 Genopedia 2 0
    NHLH1 Genopedia 2 0
    MYH7 Genopedia 2 0
    FOXE1 Genopedia 2 0
    FGF10 Genopedia 2 0
    BBS9 Genopedia 2 0
    GSTM1 Genopedia 2 0
    APC Genopedia 2 0
    SMAD3 Genopedia 2 0
    AR Genopedia 2 0
    IGF2 Genopedia 2 0
    PLAC4 Genopedia 2 1
    ERCC2 Genopedia 2 0
    ERCC6 Genopedia 2 0
    DNMT3B Genopedia 2 0
    FBN2 Genopedia 2 0
    ETS2 Genopedia 2 0
    FANCC Genopedia 2 0
    FLT3 Genopedia 2 0
    FGFR2 Genopedia 2 0
    KCNQ1OT1 Genopedia 2 0
    CEBPB Genopedia 2 0
    EDARADD Genopedia 2 1
    COL6A2 Genopedia 2 1
    CREBBP Genopedia 2 0
    CTNNB1 Genopedia 2 0
    DHFR Genopedia 2 0
    SMARCA2 Genopedia 2 0
    SMARCA4 Genopedia 2 0
    SMARCB1 Genopedia 2 0
    SMARCE1 Genopedia 2 0
    SORL1 Genopedia 2 0
    BBS4 Genopedia 2 0
    GRHL3 Genopedia 2 0
    RIT1 Genopedia 2 0
    CRLF2 Genopedia 2 0
    NPHP1 Genopedia 2 0
    SIM1 Genopedia 2 0
    SIM2 Genopedia 2 0
    SIX3 Genopedia 2 0
    NRXN1 Genopedia 2 0
    SMC3 Genopedia 2 0
    CEP290 Genopedia 2 0
    SMC1A Genopedia 2 0
    ARID1A Genopedia 2 0
    PICALM Genopedia 2 0
    ALMS1 Genopedia 2 0
    TGFB1 Genopedia 2 0
    YWHAE Genopedia 2 0
    BBS10 Genopedia 2 0
    ZFHX4 Genopedia 2 0
    TTC21B Genopedia 1 0
    CALCR Genopedia 1 1
    RMI1 Genopedia 1 0
    FRAS1 Genopedia 1 0
    IFT74 Genopedia 1 0
    SF1 Genopedia 1 0
    ZIC2 Genopedia 1 0
    TGFB2 Genopedia 1 0
    TGFB3 Genopedia 1 0
    USP7 Genopedia 1 0
    RAB7A Genopedia 1 0
    SHOC2 Genopedia 1 0
    MFAP5 Genopedia 1 0
    HMGA2 Genopedia 1 0
    CLPTM1L Genopedia 1 0
    TRIM8 Genopedia 1 0
    SHARPIN Genopedia 1 0
    MKKS Genopedia 1 0
    C7orf49 Genopedia 1 0
    FTO Genopedia 1 0
    PWRN1 Genopedia 1 0
    CCDC28B Genopedia 1 0
    GALNT14 Genopedia 1 0
    DYNC2H1 Genopedia 1 0
    GALNT12 Genopedia 1 0
    TNNC1 Genopedia 1 0
    TNNI3 Genopedia 1 0
    TNNT2 Genopedia 1 0
    WNT7A Genopedia 1 0
    WNT10B Genopedia 1 0
    WNT9B Genopedia 1 0
    XRCC1 Genopedia 1 0
    EPPK1 Genopedia 1 0
    ARL6 Genopedia 1 0
    PHF6 Genopedia 1 0
    MCHR2 Genopedia 1 0
    PARP10 Genopedia 1 0
    CEP89 Genopedia 1 0
    DISP1 Genopedia 1 0
    ITGA8 Genopedia 1 0
    PDXK Genopedia 1 1
    RUNX1 Genopedia 1 0
    FGF18 Genopedia 1 0
    NRP1 Genopedia 1 0
    PHOX2B Genopedia 1 0
    KLHL6 Genopedia 1 0
    WDR34 Genopedia 1 0
    GPRC5A Genopedia 1 0
    TMEM67 Genopedia 1 0
    GGTLC1 Genopedia 1 0
    HAND1 Genopedia 1 0
    CD33 Genopedia 1 0
    KIAA0586 Genopedia 1 0
    MAGI2 Genopedia 1 0
    KIAA0415 Genopedia 1 0
    UNC5C Genopedia 1 0
    PTCH2 Genopedia 1 0
    ADAM18 Genopedia 1 0
    RTN4R Genopedia 1 0
    PCDH15 Genopedia 1 0
    C5orf42 Genopedia 1 0
    SLC6A4 Genopedia 1 0
    PRDM16 Genopedia 1 0
    CDH23 Genopedia 1 0
    MS4A6A Genopedia 1 0
    RHBDF1 Genopedia 1 0
    ACTA2 Genopedia 1 0
    RARA Genopedia 1 0
    RET Genopedia 1 0
    RMRP Genopedia 1 0
    EDA2R Genopedia 1 1
    RXRA Genopedia 1 0
    S100A8 Genopedia 1 0
    SCN5A Genopedia 1 0
    SCN9A Genopedia 1 0
    PEX2 Genopedia 1 0
    RAB5A Genopedia 1 0
    RAD21 Genopedia 1 0
    ALDH18A1 Genopedia 1 0
    SRD5A2 Genopedia 1 0
    BRCA1 Genopedia 1 0
    BTG1 Genopedia 1 0
    TCF20 Genopedia 1 0
    TCN1 Genopedia 1 0
    BRCA2 Genopedia 1 0
    STATH Genopedia 1 0
    SHMT1 Genopedia 1 0
    SHMT2 Genopedia 1 0
    TPM1 Genopedia 1 0
    TRAF6 Genopedia 1 1
    ACTG2 Genopedia 1 0
    TRH Genopedia 1 0
    TRIO Genopedia 1 0
    TTN Genopedia 1 0
    TWIST1 Genopedia 1 0
    TYMS Genopedia 1 0
    KDM6A Genopedia 1 0
    VEGFA Genopedia 1 0
    ACTC1 Genopedia 1 0
    TERT Genopedia 1 0
    TFAP2A Genopedia 1 0
    TFPI Genopedia 1 0
    TGFBR3 Genopedia 1 0
    TGM1 Genopedia 1 1
    ACTG1 Genopedia 1 0
    DLG2 Genopedia 1 0
    DLX3 Genopedia 1 0
    DYNC1I2 Genopedia 1 0
    DNMT1 Genopedia 1 0
    DNMT3A Genopedia 1 0
    COX15 Genopedia 1 0
    CPS1 Genopedia 1 0
    CR1 Genopedia 1 0
    CYP2C9 Genopedia 1 0
    ESCO2 Genopedia 1 0
    CYP3A4 Genopedia 1 0
    CYP3A5 Genopedia 1 0
    FREM1 Genopedia 1 0
    CYP17A1 Genopedia 1 0
    CYP19A1 Genopedia 1 0
    DAB1 Genopedia 1 0
    CD55 Genopedia 1 0
    ACE Genopedia 1 0
    RBM46 Genopedia 1 0
    SLC30A8 Genopedia 1 0
    C10orf128 Genopedia 1 0
    GATA5 Genopedia 1 0
    CTCFL Genopedia 1 0
    MACROD2 Genopedia 1 0
    RSS Genopedia 1 0
    MPP7 Genopedia 1 0
    A2ML1 Genopedia 1 0
    CST3 Genopedia 1 0
    COL9A1 Genopedia 1 0
    BBS5 Genopedia 1 0
    CPO Genopedia 1 0
    COL6A1 Genopedia 1 0
    EHD1 Genopedia 1 0
    DEAF1 Genopedia 1 0
    PROCR Genopedia 1 0
    IGF2BP2 Genopedia 1 0
    SPINT2 Genopedia 1 0
    CETP Genopedia 1 0
    RAI1 Genopedia 1 0
    CFTR Genopedia 1 0
    GJB6 Genopedia 1 0
    CDKN2A Genopedia 1 0
    CDKN2B Genopedia 1 0
    TNIP1 Genopedia 1 0
    IKZF1 Genopedia 1 0
    ABCA7 Genopedia 1 0
    PEMT Genopedia 1 1
    SLC9A6 Genopedia 1 0
    CAPN10 Genopedia 1 0
    LDB3 Genopedia 1 0
    WDHD1 Genopedia 1 0
    MRAP2 Genopedia 1 0
    RPUSD1 Genopedia 1 0
    NXNL1 Genopedia 1 0
    HCN4 Genopedia 1 0
    ABCB6 Genopedia 1 0
    USH1C Genopedia 1 0
    IFNL4 Genopedia 1 0
    SLC25A13 Genopedia 1 0
    CD96 Genopedia 1 0
    CLCN5 Genopedia 1 0
    CLU Genopedia 1 0
    TPH2 Genopedia 1 0
    TTC8 Genopedia 1 0
    TC2N Genopedia 1 0
    CCR5 Genopedia 1 0
    USH1G Genopedia 1 0
    GJB4 Genopedia 1 0
    COL3A1 Genopedia 1 0
    SPATA17 Genopedia 1 0
    FOXF1 Genopedia 1 0
    TRIM32 Genopedia 1 0
    FGFR3 Genopedia 1 0
    GATA3 Genopedia 1 0
    GATA4 Genopedia 1 0
    HIBCH Genopedia 1 0
    GBP3 Genopedia 1 0
    GREM1 Genopedia 1 0
    AMH Genopedia 1 0
    GALT Genopedia 1 0
    ASPM Genopedia 1 0
    DNAH1 Genopedia 1 0
    ABHD12 Genopedia 1 0
    ZBTB20 Genopedia 1 0
    IFT172 Genopedia 1 0
    NPHP4 Genopedia 1 0
    GLI3 Genopedia 1 0
    BIN1 Genopedia 1 0
    EML4 Genopedia 1 0
    GNRH1 Genopedia 1 0
    IL28B Genopedia 1 0
    KIAA1267 Genopedia 1 0
    DLL1 Genopedia 1 0
    PNPLA1 Genopedia 1 0
    GPR35 Genopedia 1 0
    SLC25A4 Genopedia 1 0
    ANKRD11 Genopedia 1 0
    GJA1 Genopedia 1 0
    AMPD1 Genopedia 1 0
    GJB2 Genopedia 1 0
    GJB3 Genopedia 1 0
    B9D1 Genopedia 1 0
    DISC1 Genopedia 1 0
    ASTN2 Genopedia 1 0
    GRIP1 Genopedia 1 0
    HEY1 Genopedia 1 0
    TNFRSF13B Genopedia 1 0
    CD2AP Genopedia 1 0
    BACE1 Genopedia 1 0
    C15orf2 Genopedia 1 0
    FLRT3 Genopedia 1 0
    FRZB Genopedia 1 0
    PCSK9 Genopedia 1 0
    BACE2 Genopedia 1 0
    FBLN2 Genopedia 1 0
    EYA1 Genopedia 1 0
    ALDH2 Genopedia 1 0
    HEPACAM Genopedia 1 0
    FGF3 Genopedia 1 0
    FGF8 Genopedia 1 0
    DRD4 Genopedia 1 0
    ABCA1 Genopedia 1 0
    EDN3 Genopedia 1 0
    DSCAM Genopedia 1 0
    AGT Genopedia 1 0
    DYRK1A Genopedia 1 0
    EBF1 Genopedia 1 0
    ESR1 Genopedia 1 0
    ESR2 Genopedia 1 0
    ERCC3 Genopedia 1 0
    ACSF3 Genopedia 1 0
    ENG Genopedia 1 0
    EP300 Genopedia 1 0
    EPHA1 Genopedia 1 0
    HIPK1 Genopedia 1 0
    IGHV@ Genopedia 1 0
    JAG2 Genopedia 1 0
    KCNH2 Genopedia 1 0
    KCNJ6 Genopedia 1 1
    KCNQ1 Genopedia 1 0
    ACAT1 Genopedia 1 0
    LCAT Genopedia 1 0
    LCN2 Genopedia 1 0
    LDLR Genopedia 1 0
    LOR Genopedia 1 0
    LOX Genopedia 1 0
    LTB Genopedia 1 0
    CYP4F3 Genopedia 1 0
    ARSA Genopedia 1 0
    MAT1A Genopedia 1 0
    MC1R Genopedia 1 0
    MDM2 Genopedia 1 0
    MDM4 Genopedia 1 0
    MECP2 Genopedia 1 0
    MEST Genopedia 1 0
    MFAP4 Genopedia 1 0
    MID1 Genopedia 1 0
    MLL Genopedia 1 0
    MSX1 Genopedia 1 0
    MUTYH Genopedia 1 0
    MYBPC3 Genopedia 1 0
    MYH6 Genopedia 1 0
    GSTP1 Genopedia 1 0
    GSTT1 Genopedia 1 0
    ZDHHC8 Genopedia 1 0
    GUSB Genopedia 1 0
    HHEX Genopedia 1 0
    MNX1 Genopedia 1 0
    HOXA@ Genopedia 1 0
    HES1 Genopedia 1 0
    HSPA1L Genopedia 1 0
    APOB Genopedia 1 0
    ICR1 Genopedia 1 1
    HEPHL1 Genopedia 1 0
    IDE Genopedia 1 0
    FREM2 Genopedia 1 0
    CDKL4 Genopedia 1 0
    APOC3 Genopedia 1 0
    IFNG Genopedia 1 0
    KIF24 Genopedia 1 0
    IGF1 Genopedia 1 0
    FLG Genopedia 1 0
    FLNA Genopedia 1 0
    HOXA11 Genopedia 1 0
    HOXA13 Genopedia 1 0
    IGF1R Genopedia 1 0
    INSL3 Genopedia 1 0
    INSR Genopedia 1 0
    IL1A Genopedia 1 0
    IL1B Genopedia 1 0
    IL1RN Genopedia 1 0
    MYH11 Genopedia 1 0
    MYL2 Genopedia 1 0
    MYL3 Genopedia 1 0
    MYLK Genopedia 1 0
    MYO7A Genopedia 1 0
    MYO9B Genopedia 1 0
    NDN Genopedia 1 0
    NDUFB3 Genopedia 1 0
    NEK1 Genopedia 1 0
    NF1 Genopedia 1 0
    NFIX Genopedia 1 0
    NMB Genopedia 1 0
    NONO Genopedia 1 0
    NOS3 Genopedia 1 0
    NOTCH2 Genopedia 1 0
    PIK3C3 Genopedia 1 0
    PIK3CA Genopedia 1 0
    PI4KA Genopedia 1 0
    PLEC Genopedia 1 0
    STX18 Genopedia 1 0
    PMP22 Genopedia 1 0
    RIPK4 Genopedia 1 0
    TREM2 Genopedia 1 0
    POLG Genopedia 1 0
    NTRK3 Genopedia 1 0
    CISD2 Genopedia 1 0
    ZNF295 Genopedia 1 0
    PAFAH1B1 Genopedia 1 0
    PAX5 Genopedia 1 0
    NSDHL Genopedia 1 0
    PBX1 Genopedia 1 0
    PDE11A Genopedia 1 0
    WAC Genopedia 1 0
    CDKAL1 Genopedia 1 0
    MKS1 Genopedia 1 0
    WDR60 Genopedia 1 0
    DGCR8 Genopedia 1 0
    GNB1L Genopedia 1 0
    PPBP Genopedia 1 1
    MESP1 Genopedia 1 0
    FBXW7 Genopedia 1 0
    CHDH Genopedia 1 1
    UGGT2 Genopedia 1 0
    VPS11 Genopedia 1 0
    PARD3 Genopedia 1 0
    PSEN1 Genopedia 1 0
    PEO1 Genopedia 1 0
    TWSG1 Genopedia 1 0
    GPR126 Genopedia 1 0
    PTCH Genopedia 1 0
    PRL Genopedia 1 0
    ANKH Genopedia 1 0
    PRNP Genopedia 1 0
    MIB1 Genopedia 1 0
    CC2D2A Genopedia 1 0
    PCDH10 Genopedia 1 0
    RNF213 Genopedia 1 0
    MARK4 Genopedia 1 0
    PTGDR Genopedia 1 0
    TMEM27 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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