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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


DNA Repair-Deficiency Disorders

206 genes has been reported with DNA Repair-Deficiency Disorders
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Associated Gene
Total Publication
Meta-analysis Publication
    MLH1 Genopedia 145 1
    MSH2 Genopedia 134 1
    MSH6 Genopedia 81 0
    TP53 Genopedia 39 0
    PMS2 Genopedia 31 0
    BRAF Genopedia 25 0
    ATM Genopedia 23 0
    MUTYH Genopedia 15 0
    BRCA2 Genopedia 14 1
    BRCA1 Genopedia 12 1
    ERCC2 Genopedia 10 0
    ERCC5 Genopedia 9 1
    NBN Genopedia 9 0
    MDM2 Genopedia 9 0
    KRAS Genopedia 9 0
    XPC Genopedia 8 1
    WRN Genopedia 8 0
    PIK3CA Genopedia 6 0
    XPA Genopedia 5 0
    APC Genopedia 5 0
    ERCC4 Genopedia 5 0
    CHEK2 Genopedia 5 0
    FANCA Genopedia 4 0
    FANCC Genopedia 4 0
    IL2RG Genopedia 4 1
    MTHFR Genopedia 4 0
    PTEN Genopedia 4 0
    CCND1 Genopedia 4 1
    BLM Genopedia 4 0
    XRCC1 Genopedia 4 0
    XRCC2 Genopedia 3 0
    XRCC3 Genopedia 3 0
    PALB2 Genopedia 3 0
    BRIP1 Genopedia 3 0
    TGFBR2 Genopedia 3 0
    AURKA Genopedia 3 0
    STK11 Genopedia 3 0
    CDH1 Genopedia 3 0
    RAG1 Genopedia 3 1
    RAG2 Genopedia 3 1
    SMAD7 Genopedia 3 0
    EPCAM Genopedia 3 0
    IGF1 Genopedia 3 0
    ALDH2 Genopedia 3 0
    CDKN2A Genopedia 3 0
    CTNNB1 Genopedia 3 0
    CYP1A1 Genopedia 3 0
    ERCC3 Genopedia 3 0
    COX8A Genopedia 3 1
    EPHX1 Genopedia 2 0
    ERCC1 Genopedia 2 0
    DDB1 Genopedia 2 0
    ERCC8 Genopedia 2 0
    ADA Genopedia 2 1
    GSTM1 Genopedia 2 0
    GSTP1 Genopedia 2 0
    GSTT1 Genopedia 2 0
    FANCD2 Genopedia 2 0
    FANCG Genopedia 2 0
    IFNG Genopedia 2 0
    LIG4 Genopedia 2 0
    IL7R Genopedia 2 1
    IL10 Genopedia 2 0
    JAK3 Genopedia 2 1
    IL1RN Genopedia 2 0
    SMAD4 Genopedia 2 0
    MRC1 Genopedia 2 0
    RAD51 Genopedia 2 0
    AICDA Genopedia 2 0
    RNASE1 Genopedia 2 0
    NRAS Genopedia 2 0
    OGG1 Genopedia 2 0
    POLD1 Genopedia 2 0
    POLH Genopedia 2 1
    FANCI Genopedia 2 0
    NAT1 Genopedia 2 1
    RECQL4 Genopedia 2 0
    TNF Genopedia 2 0
    DCLRE1C Genopedia 2 1
    BMPR1A Genopedia 2 0
    SLX4 Genopedia 2 0
    RHPN2 Genopedia 1 0
    RUNX1 Genopedia 1 0
    UNC5C Genopedia 1 0
    NAV3 Genopedia 1 0
    RMI1 Genopedia 1 0
    AXIN2 Genopedia 1 0
    XRCC4 Genopedia 1 0
    GALNT12 Genopedia 1 0
    TP73 Genopedia 1 0
    UNG Genopedia 1 0
    WAS Genopedia 1 0
    SMARCA4 Genopedia 1 0
    CSMD1 Genopedia 1 0
    SLC10A2 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
    CD40LG Genopedia 1 0
    C16orf7 Genopedia 1 0
    CEP57 Genopedia 1 0
    RAPGEF5 Genopedia 1 0
    CDC27 Genopedia 1 0
    N4BP2L1 Genopedia 1 0
    EXO1 Genopedia 1 0
    CD8A Genopedia 1 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
    RNF43 Genopedia 1 0
    FANCL Genopedia 1 0
    POLE Genopedia 1 0
    PCNA Genopedia 1 0
    RTEL1 Genopedia 1 0
    NT5E Genopedia 1 0
    RINT1 Genopedia 1 0
    RPS6KA3 Genopedia 1 0
    CFB Genopedia 1 0
    BIK Genopedia 1 0
    GALNT11 Genopedia 1 0
    TNN Genopedia 1 0
    NFKBIZ Genopedia 1 0
    REV3L Genopedia 1 0
    FANCM Genopedia 1 0
    BAK1 Genopedia 1 0
    PTPRC Genopedia 1 1
    BAX Genopedia 1 0
    MLL3 Genopedia 1 0
    RAD51C Genopedia 1 0
    MRE11A Genopedia 1 0
    MSH3 Genopedia 1 0
    NUDT1 Genopedia 1 0
    TRNL1 Genopedia 1 0
    SMAD2 Genopedia 1 0
    MAX Genopedia 1 0
    MCM4 Genopedia 1 0
    MGMT Genopedia 1 0
    GSTK1 Genopedia 1 0
    AR Genopedia 1 1
    SH2D1A Genopedia 1 0
    MIRLET7B Genopedia 1 0
    IFNGR1 Genopedia 1 0
    XIAP Genopedia 1 0
    IL1B Genopedia 1 0
    IL4 Genopedia 1 0
    IL6 Genopedia 1 0
    ZHX2 Genopedia 1 0
    MMRN1 Genopedia 1 0
    FMR1 Genopedia 1 0
    MCM9 Genopedia 1 0
    C10orf137 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
    FANCE Genopedia 1 0
    ERCC6 Genopedia 1 0
    ESR1 Genopedia 1 0
    ESR2 Genopedia 1 0
    GUCY1A2 Genopedia 1 0
    H2AFX Genopedia 1 0
    CFH Genopedia 1 0
    HFE Genopedia 1 0
    CDKN1A Genopedia 1 0
    CDKN1B Genopedia 1 0
    GALNT6 Genopedia 1 0
    CSMD3 Genopedia 1 0
    CDKN2B Genopedia 1 0
    SEMA3C Genopedia 1 0
    Scrib Genopedia 1 0
    Braf Genopedia 1 0
    CHEK1 Genopedia 1 0
    WDHD1 Genopedia 1 0
    C11orf93 Genopedia 1 0
    COL2A1 Genopedia 1 0
    COMT Genopedia 1 0
    CYP1B1 Genopedia 1 0
    CYP17A1 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
    OR51E1 Genopedia 1 0
    WDR16 Genopedia 1 0
    NAT2 Genopedia 1 0
    AKT1 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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