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Phenopedia


DNA Repair-Deficiency Disorders
231 genes has been reported with DNA Repair-Deficiency Disorders
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Associated Gene
Total Publication
Meta-analysis Publication
    MLH1 Genopedia 151 1
    MSH2 Genopedia 139 1
    MSH6 Genopedia 89 0
    TP53 Genopedia 46 0
    PMS2 Genopedia 35 0
    BRAF Genopedia 26 0
    ATM Genopedia 24 0
    MUTYH Genopedia 16 0
    BRCA2 Genopedia 15 1
    BRCA1 Genopedia 14 1
    ERCC2 Genopedia 11 0
    MDM2 Genopedia 10 0
    NBN Genopedia 9 0
    XPC Genopedia 9 1
    KRAS Genopedia 9 0
    ERCC5 Genopedia 9 1
    WRN Genopedia 8 0
    PIK3CA Genopedia 6 0
    ERCC4 Genopedia 6 0
    EPCAM Genopedia 6 0
    XPA Genopedia 5 0
    XRCC1 Genopedia 5 0
    FANCA Genopedia 5 0
    APC Genopedia 5 0
    CHEK2 Genopedia 5 0
    BLM Genopedia 4 0
    MTHFR Genopedia 4 0
    CCND1 Genopedia 4 1
    FANCC Genopedia 4 0
    IL2RG Genopedia 4 1
    PTEN Genopedia 4 0
    ALDH2 Genopedia 4 0
    PALB2 Genopedia 4 0
    FANCG Genopedia 3 0
    ERCC8 Genopedia 3 0
    RAG2 Genopedia 3 1
    AURKA Genopedia 3 0
    XRCC2 Genopedia 3 0
    IGF1 Genopedia 3 0
    CDKN2A Genopedia 3 0
    CYP1A1 Genopedia 3 0
    STK11 Genopedia 3 0
    TGFBR2 Genopedia 3 0
    CDH1 Genopedia 3 0
    BRIP1 Genopedia 3 0
    XRCC3 Genopedia 3 0
    COX8A Genopedia 3 1
    RAG1 Genopedia 3 1
    ERCC3 Genopedia 3 0
    SMAD7 Genopedia 3 0
    POLD1 Genopedia 3 0
    CTNNB1 Genopedia 3 0
    FANCD2 Genopedia 2 0
    GSTM1 Genopedia 2 0
    RAD51 Genopedia 2 0
    EPHX1 Genopedia 2 0
    RNASE1 Genopedia 2 0
    NAT1 Genopedia 2 1
    RECQL4 Genopedia 2 0
    FANCI Genopedia 2 0
    IL1RN Genopedia 2 0
    IL10 Genopedia 2 0
    ERCC1 Genopedia 2 0
    POLH Genopedia 2 1
    IL7R Genopedia 2 1
    DDB1 Genopedia 2 0
    RUNX1 Genopedia 2 0
    IFNG Genopedia 2 0
    OGG1 Genopedia 2 0
    RINT1 Genopedia 2 0
    NRAS Genopedia 2 0
    JAK3 Genopedia 2 1
    LIG4 Genopedia 2 0
    GSTT1 Genopedia 2 0
    ERCC6 Genopedia 2 0
    DCLRE1C Genopedia 2 1
    SLX4 Genopedia 2 0
    MRC1 Genopedia 2 0
    CD8A Genopedia 2 0
    SMAD4 Genopedia 2 0
    BMPR1A Genopedia 2 0
    AICDA Genopedia 2 0
    ADA Genopedia 2 1
    TNF Genopedia 2 0
    GSTP1 Genopedia 2 0
    CFH Genopedia 1 0
    MCM4 Genopedia 1 0
    MDM4 Genopedia 1 0
    IGKV2-23 Genopedia 1 0
    UBE2T Genopedia 1 0
    GALNT6 Genopedia 1 0
    AGA Genopedia 1 0
    NDE1 Genopedia 1 0
    BAK1 Genopedia 1 0
    REV3L Genopedia 1 0
    TGFB1 Genopedia 1 0
    CDKN2B Genopedia 1 0
    IGKV3-20 Genopedia 1 0
    IGKV2-19 Genopedia 1 0
    IGKV1-22 Genopedia 1 0
    GSTA1 Genopedia 1 0
    MIRLET7B Genopedia 1 0
    TRNL1 Genopedia 1 0
    IL4 Genopedia 1 0
    BTK Genopedia 1 0
    TGFBR1 Genopedia 1 0
    GALNT12 Genopedia 1 0
    ULK2 Genopedia 1 0
    NUDT1 Genopedia 1 0
    PRKCA Genopedia 1 0
    ADAMTSL3 Genopedia 1 0
    NFKBIZ Genopedia 1 0
    TP73 Genopedia 1 0
    CHEK1 Genopedia 1 0
    COL2A1 Genopedia 1 0
    Trp53 Genopedia 1 0
    MMRN1 Genopedia 1 0
    IGKV2-29 Genopedia 1 0
    GUCY1A2 Genopedia 1 0
    H2AFX Genopedia 1 0
    AR Genopedia 1 1
    MYH11 Genopedia 1 0
    NT5E Genopedia 1 0
    CECR1 Genopedia 1 0
    PRKDC Genopedia 1 0
    BACH1 Genopedia 1 0
    RAD51C Genopedia 1 0
    GALNT11 Genopedia 1 0
    TNN Genopedia 1 0
    XRCC4 Genopedia 1 0
    UNC5C Genopedia 1 0
    C16orf7 Genopedia 1 0
    ESR2 Genopedia 1 0
    CDKN1B Genopedia 1 0
    CD4 Genopedia 1 0
    CD40LG Genopedia 1 0
    TERC Genopedia 1 0
    FANCE Genopedia 1 0
    MLH3 Genopedia 1 0
    LAMA1 Genopedia 1 0
    Braf Genopedia 1 0
    CSMD3 Genopedia 1 0
    COMT Genopedia 1 0
    WDR16 Genopedia 1 0
    EGFR Genopedia 1 0
    HFE Genopedia 1 0
    SMAD2 Genopedia 1 0
    MGMT Genopedia 1 0
    SH2D1A Genopedia 1 0
    PCNA Genopedia 1 0
    FANCM Genopedia 1 0
    PTPRC Genopedia 1 1
    CYP1B1 Genopedia 1 0
    CYP17A1 Genopedia 1 0
    ETV6 Genopedia 1 0
    RPS6KA3 Genopedia 1 0
    SLC10A2 Genopedia 1 0
    AXIN2 Genopedia 1 0
    Scrib Genopedia 1 0
    FOXP3 Genopedia 1 0
    B2M Genopedia 1 0
    BIK Genopedia 1 0
    MCM9 Genopedia 1 0
    GREM1 Genopedia 1 0
    CEBPA Genopedia 1 0
    ERBB2 Genopedia 1 0
    IL1B Genopedia 1 0
    E2F2 Genopedia 1 0
    NAT2 Genopedia 1 0
    C11orf93 Genopedia 1 0
    OR51E1 Genopedia 1 0
    MSH3 Genopedia 1 0
    DDX41 Genopedia 1 0
    GATA2 Genopedia 1 0
    RMI1 Genopedia 1 0
    PPM1D Genopedia 1 0
    NAV3 Genopedia 1 0
    N4BP2L1 Genopedia 1 0
    RENBP Genopedia 1 0
    BCL2L1 Genopedia 1 0
    TCF7L2 Genopedia 1 0
    WAS Genopedia 1 0
    FBXW7 Genopedia 1 0
    MAP2K7 Genopedia 1 0
    CSMD1 Genopedia 1 0
    TERT Genopedia 1 0
    ABCC1 Genopedia 1 0
    RTEL1 Genopedia 1 0
    ETV4 Genopedia 1 0
    ANKRD26 Genopedia 1 0
    FMR1 Genopedia 1 0
    KAT2A Genopedia 1 0
    IGKV2-18 Genopedia 1 0
    CD274 Genopedia 1 0
    GSTK1 Genopedia 1 0
    EPHB2 Genopedia 1 0
    RHPN2 Genopedia 1 0
    RAPGEF5 Genopedia 1 0
    BAX Genopedia 1 0
    MLL3 Genopedia 1 0
    POLE Genopedia 1 0
    RNF43 Genopedia 1 0
    SEMA3C Genopedia 1 0
    AKT1 Genopedia 1 0
    ESR1 Genopedia 1 0
    ZHX2 Genopedia 1 0
    KDM4C Genopedia 1 0
    MAX Genopedia 1 0
    MRE11A Genopedia 1 0
    UNG Genopedia 1 0
    SMARCA4 Genopedia 1 0
    FANCL Genopedia 1 0
    PIWIL2 Genopedia 1 0
    USP7 Genopedia 1 0
    TAS1R1 Genopedia 1 0
    EXO1 Genopedia 1 0
    KIAA0430 Genopedia 1 0
    C10orf137 Genopedia 1 0
    XIAP Genopedia 1 0
    IFNGR1 Genopedia 1 0
    CDKN1A Genopedia 1 0
    WDHD1 Genopedia 1 0
    DNMT3B Genopedia 1 0
    EPHA3 Genopedia 1 0
    TXNRD1 Genopedia 1 0
    CFB Genopedia 1 0
    CEP57 Genopedia 1 0
    CDC27 Genopedia 1 0
    IL6 Genopedia 1 0
    DDX11 Genopedia 1 0
    EPHB6 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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