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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


DNA Repair-Deficiency Disorders

194 genes has been reported with DNA Repair-Deficiency Disorders
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Associated Gene
Total Publication
Meta-analysis Publication
    MLH1 Genopedia 142 1
    MSH2 Genopedia 133 1
    MSH6 Genopedia 80 0
    TP53 Genopedia 39 0
    PMS2 Genopedia 29 0
    ATM Genopedia 23 0
    BRAF Genopedia 23 0
    MUTYH Genopedia 15 0
    BRCA2 Genopedia 14 1
    BRCA1 Genopedia 12 1
    NBN Genopedia 9 0
    ERCC2 Genopedia 9 0
    KRAS Genopedia 9 0
    MDM2 Genopedia 9 0
    WRN Genopedia 8 0
    XPC Genopedia 8 1
    PIK3CA Genopedia 6 0
    ERCC5 Genopedia 6 0
    APC Genopedia 5 0
    XPA Genopedia 5 0
    CHEK2 Genopedia 5 0
    ERCC4 Genopedia 5 0
    IL2RG Genopedia 4 1
    CCND1 Genopedia 4 1
    FANCC Genopedia 4 0
    FANCA Genopedia 4 0
    XRCC1 Genopedia 4 0
    BLM Genopedia 4 0
    PTEN Genopedia 4 0
    MTHFR Genopedia 4 0
    AURKA Genopedia 3 0
    STK11 Genopedia 3 0
    IGF1 Genopedia 3 0
    SMAD7 Genopedia 3 0
    XRCC2 Genopedia 3 0
    EPCAM Genopedia 3 0
    CDKN2A Genopedia 3 0
    RAG1 Genopedia 3 1
    ALDH2 Genopedia 3 0
    BRIP1 Genopedia 3 0
    COX8A Genopedia 3 1
    XRCC3 Genopedia 3 0
    PALB2 Genopedia 3 0
    RAG2 Genopedia 3 1
    ERCC3 Genopedia 3 0
    CDH1 Genopedia 3 0
    TGFBR2 Genopedia 2 0
    CYP1A1 Genopedia 2 0
    RNASE1 Genopedia 2 0
    JAK3 Genopedia 2 1
    SMAD4 Genopedia 2 0
    MRC1 Genopedia 2 0
    POLD1 Genopedia 2 0
    FANCD2 Genopedia 2 0
    RAD51 Genopedia 2 0
    SLX4 Genopedia 2 0
    ERCC1 Genopedia 2 0
    OGG1 Genopedia 2 0
    TNF Genopedia 2 0
    ERCC8 Genopedia 2 0
    DDB1 Genopedia 2 0
    IFNG Genopedia 2 0
    IL1RN Genopedia 2 0
    ADA Genopedia 2 1
    IL10 Genopedia 2 0
    POLH Genopedia 2 1
    AICDA Genopedia 2 0
    BMPR1A Genopedia 2 0
    FANCG Genopedia 2 0
    GSTP1 Genopedia 2 0
    IL7R Genopedia 2 1
    FANCI Genopedia 2 0
    RECQL4 Genopedia 2 0
    GSTM1 Genopedia 2 0
    GSTT1 Genopedia 2 0
    EPHX1 Genopedia 2 0
    DCLRE1C Genopedia 2 1
    LIG4 Genopedia 2 0
    NRAS Genopedia 2 0
    FANCL Genopedia 1 0
    PTPRC Genopedia 1 1
    RINT1 Genopedia 1 0
    RPS6KA3 Genopedia 1 0
    GALNT11 Genopedia 1 0
    TNN Genopedia 1 0
    SLC10A2 Genopedia 1 0
    C10orf137 Genopedia 1 0
    XIAP Genopedia 1 0
    CDKN1B Genopedia 1 0
    Scrib Genopedia 1 0
    WDHD1 Genopedia 1 0
    DNMT3B Genopedia 1 0
    EPHA3 Genopedia 1 0
    XRCC4 Genopedia 1 0
    UNC5C Genopedia 1 0
    TP73 Genopedia 1 0
    CD8A Genopedia 1 0
    CD40LG Genopedia 1 0
    CDC27 Genopedia 1 0
    ERCC6 Genopedia 1 0
    FANCE Genopedia 1 0
    AR Genopedia 1 1
    SMAD2 Genopedia 1 0
    ADAMTSL3 Genopedia 1 0
    CFB Genopedia 1 0
    GUCY1A2 Genopedia 1 0
    H2AFX Genopedia 1 0
    Braf Genopedia 1 0
    CHEK1 Genopedia 1 0
    WDR16 Genopedia 1 0
    EGFR Genopedia 1 0
    EPHB6 Genopedia 1 0
    TGFB1 Genopedia 1 0
    UNG Genopedia 1 0
    WAS Genopedia 1 0
    RMI1 Genopedia 1 0
    NAV3 Genopedia 1 0
    NAT1 Genopedia 1 1
    BAK1 Genopedia 1 0
    BAX Genopedia 1 0
    POLE Genopedia 1 0
    MCM4 Genopedia 1 0
    MRE11A Genopedia 1 0
    AKT1 Genopedia 1 0
    ESR1 Genopedia 1 0
    CFH Genopedia 1 0
    NAT2 Genopedia 1 0
    SEMA3C Genopedia 1 0
    GALNT6 Genopedia 1 0
    C11orf93 Genopedia 1 0
    OR51E1 Genopedia 1 0
    BTK Genopedia 1 0
    TERT Genopedia 1 0
    GALNT12 Genopedia 1 0
    RHPN2 Genopedia 1 0
    RAPGEF5 Genopedia 1 0
    BIK Genopedia 1 0
    CSMD1 Genopedia 1 0
    FBXW7 Genopedia 1 0
    TRNL1 Genopedia 1 0
    IL4 Genopedia 1 0
    FMR1 Genopedia 1 0
    KAT2A Genopedia 1 0
    GREM1 Genopedia 1 0
    AGA Genopedia 1 0
    E2F2 Genopedia 1 0
    IGKV2-23 Genopedia 1 0
    UBE2T Genopedia 1 0
    MAX Genopedia 1 0
    MSH3 Genopedia 1 0
    N4BP2L1 Genopedia 1 0
    MLL3 Genopedia 1 0
    REV3L Genopedia 1 0
    TCF7L2 Genopedia 1 0
    RTEL1 Genopedia 1 0
    CDKN2B Genopedia 1 0
    EPHB2 Genopedia 1 0
    IGKV3-20 Genopedia 1 0
    IGKV2-19 Genopedia 1 0
    IGKV2-18 Genopedia 1 0
    IGKV1-22 Genopedia 1 0
    CD274 Genopedia 1 0
    IL1B Genopedia 1 0
    MAP2K7 Genopedia 1 0
    RUNX1 Genopedia 1 0
    CEP57 Genopedia 1 0
    NFKBIZ Genopedia 1 0
    TERC Genopedia 1 0
    MMRN1 Genopedia 1 0
    MLH3 Genopedia 1 0
    LAMA1 Genopedia 1 0
    IGKV2-29 Genopedia 1 0
    HFE Genopedia 1 0
    CSMD3 Genopedia 1 0
    COL2A1 Genopedia 1 0
    COMT Genopedia 1 0
    CTNNB1 Genopedia 1 0
    DDX11 Genopedia 1 0
    PRKCA Genopedia 1 0
    NUDT1 Genopedia 1 0
    SH2D1A Genopedia 1 0
    IL6 Genopedia 1 0
    SMARCA4 Genopedia 1 0
    CYP17A1 Genopedia 1 0
    CDKN1A Genopedia 1 0
    EXO1 Genopedia 1 0
    C16orf7 Genopedia 1 0
    ESR2 Genopedia 1 0
    IFNGR1 Genopedia 1 0
    PCNA Genopedia 1 0
    PRKDC Genopedia 1 0
    BACH1 Genopedia 1 0
    FANCM Genopedia 1 0
    RAD51C 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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