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HuGE Navigator|Phenopedia|PHGKB

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