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Phenopedia


DNA Repair-Deficiency Disorders

We have to retire this site due to some reasons. This site has not longer been updated and some links are not working properly.
216 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 138 1
    MSH6 Genopedia 87 0
    TP53 Genopedia 43 0
    PMS2 Genopedia 34 0
    BRAF Genopedia 26 0
    ATM Genopedia 23 0
    MUTYH Genopedia 16 0
    BRCA2 Genopedia 15 1
    BRCA1 Genopedia 14 1
    ERCC2 Genopedia 11 0
    ERCC5 Genopedia 9 1
    NBN Genopedia 9 0
    MDM2 Genopedia 9 0
    KRAS Genopedia 9 0
    XPC Genopedia 9 1
    WRN Genopedia 8 0
    PIK3CA Genopedia 6 0
    ERCC4 Genopedia 6 0
    CHEK2 Genopedia 5 0
    APC Genopedia 5 0
    XPA Genopedia 5 0
    XRCC1 Genopedia 5 0
    CCND1 Genopedia 4 1
    BLM Genopedia 4 0
    PALB2 Genopedia 4 0
    IL2RG Genopedia 4 1
    EPCAM Genopedia 4 0
    MTHFR Genopedia 4 0
    PTEN Genopedia 4 0
    FANCA Genopedia 4 0
    FANCC Genopedia 4 0
    ERCC3 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
    POLD1 Genopedia 3 0
    SMAD7 Genopedia 3 0
    IGF1 Genopedia 3 0
    ALDH2 Genopedia 3 0
    BRIP1 Genopedia 3 0
    CDH1 Genopedia 3 0
    AURKA Genopedia 3 0
    STK11 Genopedia 3 0
    XRCC2 Genopedia 3 0
    XRCC3 Genopedia 3 0
    TGFBR2 Genopedia 3 0
    TNF Genopedia 2 0
    DCLRE1C Genopedia 2 1
    BMPR1A Genopedia 2 0
    RNASE1 Genopedia 2 0
    RINT1 Genopedia 2 0
    RUNX1 Genopedia 2 0
    SLX4 Genopedia 2 0
    NAT1 Genopedia 2 1
    RECQL4 Genopedia 2 0
    IL1RN Genopedia 2 0
    IL7R Genopedia 2 1
    IL10 Genopedia 2 0
    IFNG Genopedia 2 0
    MRC1 Genopedia 2 0
    JAK3 Genopedia 2 1
    LIG4 Genopedia 2 0
    POLH Genopedia 2 1
    SMAD4 Genopedia 2 0
    NRAS Genopedia 2 0
    OGG1 Genopedia 2 0
    RAD51 Genopedia 2 0
    AICDA Genopedia 2 0
    FANCI 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
    FANCG Genopedia 2 0
    ANKRD26 Genopedia 1 0
    ZHX2 Genopedia 1 0
    MMRN1 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
    NAT2 Genopedia 1 0
    AKT1 Genopedia 1 0
    ESR1 Genopedia 1 0
    ESR2 Genopedia 1 0
    ETV6 Genopedia 1 0
    FANCE 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
    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
    FANCM Genopedia 1 0
    BAK1 Genopedia 1 0
    PTPRC Genopedia 1 1
    BAX Genopedia 1 0
    MLL3 Genopedia 1 0
    RAD51C Genopedia 1 0
    FOXP3 Genopedia 1 0
    PCNA Genopedia 1 0
    DDX41 Genopedia 1 0
    RTEL1 Genopedia 1 0
    CECR1 Genopedia 1 0
    TRNL1 Genopedia 1 0
    NT5E Genopedia 1 0
    RNF43 Genopedia 1 0
    FANCL Genopedia 1 0
    POLE Genopedia 1 0
    SH2D1A Genopedia 1 0
    MIRLET7B Genopedia 1 0
    GSTK1 Genopedia 1 0
    SMAD2 Genopedia 1 0
    MRE11A Genopedia 1 0
    MSH3 Genopedia 1 0
    NUDT1 Genopedia 1 0
    MAX Genopedia 1 0
    MCM4 Genopedia 1 0
    MGMT 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
    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
    PPM1D Genopedia 1 0
    RHPN2 Genopedia 1 0
    RMI1 Genopedia 1 0
    TAS1R1 Genopedia 1 0
    AXIN2 Genopedia 1 0
    UNC5C Genopedia 1 0
    NAV3 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
    TCF7L2 Genopedia 1 0
    BTK Genopedia 1 0
    TERC Genopedia 1 0
    TERT Genopedia 1 0
    TGFB1 Genopedia 1 0
    TGFBR1 Genopedia 1 0
    SMARCA4 Genopedia 1 0
    CSMD1 Genopedia 1 0
    SLC10A2 Genopedia 1 0
    TP73 Genopedia 1 0
    UNG Genopedia 1 0
    WAS Genopedia 1 0
    XRCC4 Genopedia 1 0
    GALNT12 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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