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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Skin Abnormalities

106 genes has been reported with Skin Abnormalities
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Associated Gene
Total Publication
Meta-analysis Publication
    FLG Genopedia 19 0
    ABCC6 Genopedia 16 0
    ERCC2 Genopedia 13 0
    ERCC5 Genopedia 9 1
    XPC Genopedia 8 1
    COL7A1 Genopedia 6 0
    PTPN11 Genopedia 5 0
    SOS1 Genopedia 5 0
    ERCC4 Genopedia 5 0
    XRCC1 Genopedia 5 0
    XPA Genopedia 5 0
    KRAS Genopedia 4 0
    TERT Genopedia 4 0
    ENPP1 Genopedia 4 0
    DKC1 Genopedia 4 0
    HRAS Genopedia 4 0
    MAP2K1 Genopedia 4 0
    EDA Genopedia 4 1
    WNT10A Genopedia 3 0
    EDAR Genopedia 3 1
    ERCC3 Genopedia 3 0
    TINF2 Genopedia 3 0
    TERC Genopedia 3 0
    GSTM1 Genopedia 3 0
    RAF1 Genopedia 3 0
    BRAF Genopedia 3 0
    TP63 Genopedia 2 0
    GSTT1 Genopedia 2 0
    MMP1 Genopedia 2 0
    KRT5 Genopedia 2 0
    MTHFR Genopedia 2 0
    PRKAR1A Genopedia 2 1
    MAP2K2 Genopedia 2 0
    C16orf57 Genopedia 2 0
    VEGFA Genopedia 2 0
    STS Genopedia 2 0
    POLH Genopedia 2 1
    KRT14 Genopedia 2 0
    RIT1 Genopedia 2 0
    TGM1 Genopedia 2 0
    EDARADD Genopedia 2 1
    GNAQ Genopedia 2 0
    DDB1 Genopedia 2 0
    XRCC3 Genopedia 2 0
    ERCC1 Genopedia 2 0
    COL3A1 Genopedia 2 0
    RASA1 Genopedia 1 0
    SELE Genopedia 1 0
    FBN1 Genopedia 1 0
    HLA-DRB1 Genopedia 1 0
    FOXP3 Genopedia 1 0
    RTEL1 Genopedia 1 0
    ZNF469 Genopedia 1 0
    CAT Genopedia 1 0
    GJB6 Genopedia 1 0
    AGA Genopedia 1 0
    GGCX Genopedia 1 0
    MBTPS2 Genopedia 1 0
    NOP10 Genopedia 1 0
    EDA2R Genopedia 1 1
    GPX1 Genopedia 1 0
    FGFR2 Genopedia 1 0
    CTNNB1 Genopedia 1 0
    ICAM1 Genopedia 1 0
    NF1 Genopedia 1 0
    NHP2 Genopedia 1 0
    FOXL2 Genopedia 1 0
    FERMT1 Genopedia 1 0
    SMARCA2 Genopedia 1 0
    SPP1 Genopedia 1 0
    COL9A1 Genopedia 1 0
    FGFR1 Genopedia 1 0
    HEY1 Genopedia 1 0
    GJA1 Genopedia 1 0
    JAG2 Genopedia 1 0
    NOTCH1 Genopedia 1 0
    RECQL4 Genopedia 1 0
    ANKH Genopedia 1 0
    SOD2 Genopedia 1 0
    ALDH2 Genopedia 1 0
    ALPL Genopedia 1 0
    IL36RN Genopedia 1 0
    GSTP1 Genopedia 1 0
    CFH Genopedia 1 0
    HES1 Genopedia 1 0
    MID1 Genopedia 1 0
    PRDM5 Genopedia 1 0
    COL1A1 Genopedia 1 0
    ALOXE3 Genopedia 1 0
    TP53 Genopedia 1 0
    TRAF6 Genopedia 1 1
    WNT10B Genopedia 1 0
    XRCC2 Genopedia 1 0
    VKORC1 Genopedia 1 0
    GRHL2 Genopedia 1 0
    NRAS Genopedia 1 0
    PDE11A Genopedia 1 0
    A2ML1 Genopedia 1 0
    SMAD3 Genopedia 1 0
    MGP Genopedia 1 0
    ALOX12B Genopedia 1 0
    GJB2 Genopedia 1 0
    IL31 Genopedia 1 0
    LIG4 Genopedia 1 0
    BMP15 Genopedia 1 0
    SHOC2 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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