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Phenopedia


Skin Diseases, Genetic

426 genes has been reported with Skin Diseases, Genetic
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Associated Gene
Total Publication
Meta-analysis Publication
    FLG Genopedia 119 6
    HFE Genopedia 24 0
    IL4 Genopedia 19 2
    IL10 Genopedia 19 1
    ABCC6 Genopedia 16 0
    OCA2 Genopedia 15 0
    ERCC2 Genopedia 13 0
    NLRP3 Genopedia 12 0
    IL13 Genopedia 12 1
    TNF Genopedia 12 0
    TYR Genopedia 11 0
    IL4R Genopedia 11 0
    SLC45A2 Genopedia 10 0
    IL18 Genopedia 9 0
    ERCC5 Genopedia 9 1
    GSTM1 Genopedia 9 0
    TLR2 Genopedia 9 1
    XPC Genopedia 9 1
    SPINK5 Genopedia 8 0
    IL1B Genopedia 8 0
    HPS1 Genopedia 7 0
    MEFV Genopedia 7 0
    GSTP1 Genopedia 7 0
    TYRP1 Genopedia 7 0
    TNFRSF1A Genopedia 7 1
    TLR4 Genopedia 6 1
    NOD2 Genopedia 6 0
    STAT6 Genopedia 6 0
    GSTT1 Genopedia 6 0
    ERCC4 Genopedia 6 0
    COL7A1 Genopedia 6 0
    DEFB1 Genopedia 5 0
    DKC1 Genopedia 5 0
    CYP1A2 Genopedia 5 0
    FCER1A Genopedia 5 0
    MTHFR Genopedia 5 0
    IL6 Genopedia 5 0
    XPA Genopedia 5 0
    XRCC1 Genopedia 5 0
    CD14 Genopedia 5 0
    TSLP Genopedia 4 0
    TERT Genopedia 4 0
    TMEM232 Genopedia 4 1
    SOS1 Genopedia 4 0
    IL1RN Genopedia 4 0
    IL5 Genopedia 4 0
    IL12RB1 Genopedia 4 0
    HRNR Genopedia 4 1
    PTPN11 Genopedia 4 0
    OVOL1 Genopedia 4 3
    MVK Genopedia 4 0
    ENPP1 Genopedia 4 0
    HLA-DRB1 Genopedia 4 0
    HMBS Genopedia 4 0
    HRAS Genopedia 4 0
    IFNG Genopedia 4 0
    IGHE Genopedia 4 0
    EDA Genopedia 4 1
    KIF3A Genopedia 4 3
    EDAR Genopedia 3 1
    IFNGR1 Genopedia 3 0
    HLA-A Genopedia 3 0
    HLA-B Genopedia 3 0
    ACTL9 Genopedia 3 2
    ERCC3 Genopedia 3 0
    FECH Genopedia 3 0
    TINF2 Genopedia 3 0
    ATP2A2 Genopedia 3 0
    C11orf30 Genopedia 3 2
    MAP2K1 Genopedia 3 0
    BDNF Genopedia 3 0
    KRAS Genopedia 3 0
    IL12B Genopedia 3 0
    IL31 Genopedia 3 0
    MC1R Genopedia 3 0
    IL1A Genopedia 3 0
    IL9 Genopedia 3 0
    CCL5 Genopedia 3 1
    KLK7 Genopedia 3 0
    SLC17A9 Genopedia 3 0
    TGFB1 Genopedia 3 0
    TGM1 Genopedia 3 0
    BRAF Genopedia 3 0
    STAT3 Genopedia 3 0
    TERC Genopedia 3 0
    VEGFA Genopedia 3 0
    HPS3 Genopedia 3 0
    WNT10A Genopedia 3 0
    TNFRSF6B Genopedia 3 1
    HPS4 Genopedia 3 0
    SLC25A46 Genopedia 3 1
    NLRP12 Genopedia 2 1
    TP63 Genopedia 2 0
    CARD11 Genopedia 2 1
    ZGPAT Genopedia 2 1
    XRCC3 Genopedia 2 0
    UROD Genopedia 2 0
    VDR Genopedia 2 0
    TP53 Genopedia 2 1
    CARD15 Genopedia 2 0
    TFR2 Genopedia 2 0
    CCL11 Genopedia 2 0
    CCL17 Genopedia 2 0
    IL9R Genopedia 2 0
    IL8 Genopedia 2 0
    IL5RA Genopedia 2 0
    IL1R1 Genopedia 2 0
    IL12A Genopedia 2 0
    STS Genopedia 2 0
    LOR Genopedia 2 0
    MVD Genopedia 2 0
    MMP1 Genopedia 2 0
    NPSR1 Genopedia 2 0
    KRT14 Genopedia 2 0
    KRT5 Genopedia 2 0
    FLG2 Genopedia 2 0
    RAF1 Genopedia 2 0
    HRH4 Genopedia 2 0
    RIT1 Genopedia 2 0
    OA1 Genopedia 2 0
    MSH2 Genopedia 2 0
    GPR143 Genopedia 2 0
    TLR9 Genopedia 2 0
    POLH Genopedia 2 1
    COL6A5 Genopedia 2 0
    LRRC32 Genopedia 2 1
    ATP2C1 Genopedia 2 0
    GJB2 Genopedia 2 0
    FDPS Genopedia 2 0
    MS4A2 Genopedia 2 0
    NLRP1 Genopedia 2 0
    SLC24A5 Genopedia 2 0
    ERCC1 Genopedia 2 0
    DDB1 Genopedia 2 0
    CSF2 Genopedia 2 0
    CARD4 Genopedia 2 0
    NOD1 Genopedia 2 0
    COL3A1 Genopedia 2 0
    EDARADD Genopedia 2 1
    CYP24A1 Genopedia 2 1
    NAT2 Genopedia 2 0
    RAD50 Genopedia 2 0
    PMVK Genopedia 2 0
    CMA1 Genopedia 2 0
    CCR4 Genopedia 2 0
    RPTN Genopedia 1 0
    GJB4 Genopedia 1 0
    COL1A1 Genopedia 1 0
    TIRAP Genopedia 1 0
    PGLYRP3 Genopedia 1 0
    KIR3DL3 Genopedia 1 0
    ERCC8 Genopedia 1 0
    ANTXR2 Genopedia 1 0
    COL8A1 Genopedia 1 0
    COL9A1 Genopedia 1 0
    RBM45 Genopedia 1 0
    COL10A1 Genopedia 1 0
    ADM Genopedia 1 0
    COX8A Genopedia 1 0
    Flg Genopedia 1 0
    CTSC Genopedia 1 0
    CFTR Genopedia 1 0
    CYSLTR1 Genopedia 1 0
    GJB6 Genopedia 1 0
    TNIP1 Genopedia 1 1
    TLR6 Genopedia 1 0
    KIR2DS2 Genopedia 1 0
    CHI3L1 Genopedia 1 0
    IRAK3 Genopedia 1 0
    HPS5 Genopedia 1 0
    IL17F Genopedia 1 0
    EFHC1 Genopedia 1 1
    LILRA3 Genopedia 1 0
    RAB31 Genopedia 1 0
    PRDM5 Genopedia 1 0
    CYP27A1 Genopedia 1 0
    CYP27B1 Genopedia 1 0
    TMTC2 Genopedia 1 1
    ACE Genopedia 1 0
    CDSN Genopedia 1 0
    A2ML1 Genopedia 1 0
    SLC38A8 Genopedia 1 0
    PTPRVP Genopedia 1 0
    HFE2 Genopedia 1 0
    LELP1 Genopedia 1 0
    IL23R Genopedia 1 0
    CTLA4 Genopedia 1 0
    PYHIN1 Genopedia 1 1
    CTNNB1 Genopedia 1 0
    CCDC80 Genopedia 1 1
    CYP1A1 Genopedia 1 0
    DEFA4 Genopedia 1 0
    DEFA5 Genopedia 1 0
    DEFA6 Genopedia 1 0
    AGA Genopedia 1 0
    DUSP1 Genopedia 1 0
    CYP2E1 Genopedia 1 0
    ADSS Genopedia 1 0
    AHR Genopedia 1 0
    EPO Genopedia 1 0
    ERBB3 Genopedia 1 0
    GPX1 Genopedia 1 0
    MSH6 Genopedia 1 0
    SLC40A1 Genopedia 1 0
    CFH Genopedia 1 0
    HLA-C Genopedia 1 1
    HLA-DQA1 Genopedia 1 0
    HLA-DQB1 Genopedia 1 0
    HNMT Genopedia 1 0
    CD209 Genopedia 1 0
    ANXA6 Genopedia 1 1
    SLC10A5 Genopedia 1 0
    APOE Genopedia 1 0
    APP Genopedia 1 0
    LCE3A Genopedia 1 0
    LCE3B Genopedia 1 0
    LCE3C Genopedia 1 0
    HES1 Genopedia 1 0
    XIAP Genopedia 1 0
    ICAM1 Genopedia 1 0
    NLRP10 Genopedia 1 1
    LOC339400 Genopedia 1 0
    IFI16 Genopedia 1 1
    IFNAR1 Genopedia 1 0
    FCGR1B Genopedia 1 0
    FCGR2A Genopedia 1 0
    LEMD2 Genopedia 1 1
    ALDH2 Genopedia 1 0
    FBN1 Genopedia 1 0
    FGFR1 Genopedia 1 0
    IKZF3 Genopedia 1 1
    FLT4 Genopedia 1 0
    CRB1 Genopedia 1 0
    HEY1 Genopedia 1 0
    ALOX12B Genopedia 1 0
    ALPL Genopedia 1 0
    LCE5A Genopedia 1 0
    D4S234E Genopedia 1 1
    GJB3 Genopedia 1 0
    MTBP Genopedia 1 0
    GLB1 Genopedia 1 1
    GNAI3 Genopedia 1 0
    GNAS Genopedia 1 0
    PTPN22 Genopedia 1 0
    GATA3 Genopedia 1 0
    OR10A3 Genopedia 1 1
    OR7E66P Genopedia 1 0
    HAVCR1 Genopedia 1 0
    GGCX Genopedia 1 0
    GJA1 Genopedia 1 0
    SSH1 Genopedia 1 0
    TOLLIP Genopedia 1 0
    UGT1A9 Genopedia 1 0
    KIR3DP1 Genopedia 1 0
    ELOVL2 Genopedia 1 1
    SLC6A15 Genopedia 1 1
    KIR2DL5B Genopedia 1 0
    KIR2DP1 Genopedia 1 0
    NOP10 Genopedia 1 0
    PRF1 Genopedia 1 0
    FERMT1 Genopedia 1 0
    NHP2 Genopedia 1 0
    MAPK1 Genopedia 1 0
    RTEL1 Genopedia 1 0
    ACP1 Genopedia 1 0
    PFDN4 Genopedia 1 1
    UBASH3A Genopedia 1 0
    PLCG2 Genopedia 1 0
    PLG Genopedia 1 0
    PMS2 Genopedia 1 0
    CRNN Genopedia 1 0
    CD207 Genopedia 1 0
    NSDHL Genopedia 1 0
    PCDH1 Genopedia 1 0
    PHF11 Genopedia 1 0
    NF1 Genopedia 1 0
    NFKB1 Genopedia 1 0
    NGF Genopedia 1 0
    NOTCH1 Genopedia 1 0
    NRAS Genopedia 1 0
    MYD88 Genopedia 1 0
    RNASE2 Genopedia 1 0
    RNASE3 Genopedia 1 0
    EDA2R Genopedia 1 1
    RPS6KB1 Genopedia 1 0
    ALOXE3 Genopedia 1 0
    BCL2A1 Genopedia 1 0
    S100A1 Genopedia 1 0
    S100A2 Genopedia 1 0
    S100A3 Genopedia 1 0
    S100A4 Genopedia 1 0
    S100A5 Genopedia 1 0
    S100A6 Genopedia 1 0
    S100A7 Genopedia 1 0
    S100A8 Genopedia 1 0
    S100A9 Genopedia 1 0
    S100A10 Genopedia 1 0
    CFB Genopedia 1 0
    CCL2 Genopedia 1 0
    MAP2K2 Genopedia 1 0
    ANKH Genopedia 1 0
    PRNP Genopedia 1 0
    TLR7 Genopedia 1 0
    PRKAG2 Genopedia 1 0
    TH1L Genopedia 1 0
    PSMB8 Genopedia 1 0
    PSMB9 Genopedia 1 0
    CYSLTR2 Genopedia 1 0
    KIR2DL5A Genopedia 1 0
    S100A14 Genopedia 1 0
    GRAMD1B Genopedia 1 1
    HAMP Genopedia 1 0
    CXCL16 Genopedia 1 0
    NLRC4 Genopedia 1 0
    RAB27A Genopedia 1 0
    OR6B2 Genopedia 1 0
    LAMA3 Genopedia 1 0
    OR10R3P Genopedia 1 0
    LAMB3 Genopedia 1 0
    LAMC2 Genopedia 1 0
    LAMP2 Genopedia 1 0
    LIG4 Genopedia 1 0
    FADS1 Genopedia 1 0
    KRT10 Genopedia 1 0
    IRF2 Genopedia 1 0
    MPG Genopedia 1 0
    MGP Genopedia 1 0
    CIITA Genopedia 1 0
    MID1 Genopedia 1 0
    MIF Genopedia 1 0
    MLH1 Genopedia 1 0
    LTA Genopedia 1 0
    LTBP1 Genopedia 1 0
    LTC4S Genopedia 1 0
    SMAD3 Genopedia 1 0
    MBL2 Genopedia 1 0
    MBP Genopedia 1 0
    MCC Genopedia 1 0
    IL12RB2 Genopedia 1 0
    IL13RA1 Genopedia 1 0
    IL13RA2 Genopedia 1 0
    IL16 Genopedia 1 0
    IL17A Genopedia 1 0
    IVL Genopedia 1 0
    JAG2 Genopedia 1 0
    KDR Genopedia 1 0
    KIR2DL1 Genopedia 1 0
    KIR2DL2 Genopedia 1 0
    KIR2DL3 Genopedia 1 0
    KIR2DL4 Genopedia 1 0
    KIR2DS1 Genopedia 1 0
    KIR2DS3 Genopedia 1 0
    KIR2DS4 Genopedia 1 0
    KIR2DS5 Genopedia 1 0
    KIR3DL1 Genopedia 1 0
    KIR3DL2 Genopedia 1 0
    KIR3DS1 Genopedia 1 0
    AIRE Genopedia 1 0
    IL2 Genopedia 1 0
    IL6R Genopedia 1 0
    IL7R Genopedia 1 0
    CCL22 Genopedia 1 0
    SELE Genopedia 1 0
    CRLF2 Genopedia 1 0
    RETN Genopedia 1 0
    SPP1 Genopedia 1 0
    SPRR1A Genopedia 1 0
    SPRR1B Genopedia 1 0
    SILV Genopedia 1 0
    SKIV2L Genopedia 1 0
    SLC6A4 Genopedia 1 0
    SOD2 Genopedia 1 0
    TFRC Genopedia 1 0
    TG Genopedia 1 0
    TGM3 Genopedia 1 0
    TSPO Genopedia 1 0
    TLR1 Genopedia 1 0
    ST2 Genopedia 1 0
    STIM1 Genopedia 1 0
    TAP1 Genopedia 1 0
    TAP2 Genopedia 1 0
    TBXA2R Genopedia 1 0
    C2 Genopedia 1 0
    TPMT Genopedia 1 0
    C3 Genopedia 1 0
    TRAF6 Genopedia 1 1
    SCGB1A1 Genopedia 1 0
    VEGFB Genopedia 1 0
    VEGFC Genopedia 1 0
    WNT10B Genopedia 1 0
    VKORC1 Genopedia 1 0
    LILRA6 Genopedia 1 0
    RDBP Genopedia 1 0
    C16orf57 Genopedia 1 0
    HPS6 Genopedia 1 0
    CYBRD1 Genopedia 1 0
    GRHL2 Genopedia 1 0
    NR4A3 Genopedia 1 1
    ZNF469 Genopedia 1 0
    CAT Genopedia 1 0
    HAVCR2 Genopedia 1 0
    ORAI1 Genopedia 1 0
    IKBKAP Genopedia 1 0
    AP3B1 Genopedia 1 0
    RUNX3 Genopedia 1 0
    IL1RL1 Genopedia 1 1
    TIMD4 Genopedia 1 0
    IL32 Genopedia 1 0
    TGM5 Genopedia 1 0
    RECQL4 Genopedia 1 0
    FADS2 Genopedia 1 0
    SART3 Genopedia 1 0
    CLDN1 Genopedia 1 0
    IL33 Genopedia 1 0
    DKFZp761E198 Genopedia 1 1
    IL18RAP Genopedia 1 1
    IL18R1 Genopedia 1 1
    STK19 Genopedia 1 0
    TIMELESS Genopedia 1 0
    HERC2 Genopedia 1 0
    ADAM33 Genopedia 1 0
    SHOC2 Genopedia 1 0
    CASP1 Genopedia 1 0
    TMEM79 Genopedia 1 1
    PRKRA Genopedia 1 1
    XRCC2 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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