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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Pigmentation Disorders

198 genes has been reported with Pigmentation Disorders
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Associated Gene
Total Publication
Meta-analysis Publication
    OCA2 Genopedia 18 1
    MC1R Genopedia 16 1
    CAT Genopedia 14 2
    TYR Genopedia 13 1
    SLC45A2 Genopedia 11 0
    STK11 Genopedia 11 1
    ERCC2 Genopedia 10 0
    HLA-DRB1 Genopedia 10 0
    ERCC5 Genopedia 9 1
    ACE Genopedia 9 3
    XPC Genopedia 9 1
    TYRP1 Genopedia 8 0
    VDR Genopedia 8 1
    TNF Genopedia 8 1
    VTLG Genopedia 8 1
    PTPN22 Genopedia 7 1
    GSTM1 Genopedia 7 1
    GSTT1 Genopedia 7 1
    HLA-A Genopedia 7 1
    HPS1 Genopedia 7 0
    CTLA4 Genopedia 7 3
    ERCC4 Genopedia 6 0
    HLA-B Genopedia 6 0
    NLRP1 Genopedia 6 0
    HLA-C Genopedia 5 1
    HLA-DQB1 Genopedia 5 0
    XRCC1 Genopedia 5 0
    XPA Genopedia 5 0
    HERC2 Genopedia 4 2
    ERCC1 Genopedia 4 0
    COMT Genopedia 4 0
    C12orf10 Genopedia 4 0
    NFE2L2 Genopedia 4 0
    SMAD4 Genopedia 3 0
    MBL2 Genopedia 3 0
    MTHFR Genopedia 3 0
    IL10 Genopedia 3 0
    LTA Genopedia 3 0
    IL1RN Genopedia 3 0
    IRF4 Genopedia 3 1
    PTGS2 Genopedia 3 0
    PTPN11 Genopedia 3 0
    FOXP3 Genopedia 3 0
    BMPR1A Genopedia 3 0
    SMOC2 Genopedia 3 0
    EDN1 Genopedia 3 0
    GZMB Genopedia 3 0
    HLA-DRB4 Genopedia 3 1
    IFNG Genopedia 3 0
    HLA-DQA1 Genopedia 3 0
    HPS3 Genopedia 3 0
    HPS4 Genopedia 3 0
    DDR1 Genopedia 3 0
    TLR4 Genopedia 2 0
    XBP1 Genopedia 2 0
    UVRAG Genopedia 2 0
    CD4 Genopedia 2 0
    XRCC3 Genopedia 2 0
    SLC44A4 Genopedia 2 0
    TXNDC5 Genopedia 2 0
    TSLP Genopedia 2 0
    GSTP1 Genopedia 2 0
    SLC24A5 Genopedia 2 0
    FOXD3 Genopedia 2 0
    FAS Genopedia 2 0
    HLA-G Genopedia 2 0
    AIRE Genopedia 2 0
    CCR6 Genopedia 2 0
    ERCC3 Genopedia 2 0
    ESR1 Genopedia 2 0
    FOXO3 Genopedia 2 0
    DDB1 Genopedia 2 0
    IFIH1 Genopedia 2 1
    SOD2 Genopedia 2 1
    BRAF Genopedia 2 0
    TAP1 Genopedia 2 0
    TGFBR2 Genopedia 2 0
    PTEN Genopedia 2 0
    PSMB8 Genopedia 2 0
    POLH Genopedia 2 1
    RAF1 Genopedia 2 0
    CLEC11A Genopedia 2 0
    KIT Genopedia 2 0
    KRAS Genopedia 2 0
    IL2RA Genopedia 2 0
    IL4 Genopedia 2 0
    IL6 Genopedia 2 0
    KITLG Genopedia 2 0
    NOS2 Genopedia 2 0
    OA1 Genopedia 2 0
    NF1 Genopedia 2 0
    PDGFRA Genopedia 2 0
    LPP Genopedia 2 0
    GPR143 Genopedia 2 0
    IL22 Genopedia 1 0
    CDK5RAP1 Genopedia 1 0
    PKD1 Genopedia 1 0
    PKD2 Genopedia 1 0
    UBASH3A Genopedia 1 0
    NPY Genopedia 1 1
    RERE Genopedia 1 0
    MITF Genopedia 1 1
    ASIP Genopedia 1 0
    MPO Genopedia 1 0
    MIR196A1 Genopedia 1 0
    MIR196A2 Genopedia 1 0
    INSR Genopedia 1 0
    FASLG Genopedia 1 0
    LAMP2 Genopedia 1 0
    LOXL1 Genopedia 1 0
    BACH2 Genopedia 1 1
    CFB Genopedia 1 0
    RAB5B Genopedia 1 0
    RAB27A Genopedia 1 0
    BNC2 Genopedia 1 0
    PRF1 Genopedia 1 0
    IL26 Genopedia 1 0
    MAP2K1 Genopedia 1 0
    MAP2K2 Genopedia 1 0
    ZMIZ1 Genopedia 1 0
    TLR2 Genopedia 1 0
    TERT Genopedia 1 0
    BRCA2 Genopedia 1 1
    STAT4 Genopedia 1 0
    SNRNP70 Genopedia 1 0
    SOD1 Genopedia 1 0
    SOD3 Genopedia 1 0
    SOS1 Genopedia 1 0
    BRCA1 Genopedia 1 1
    CXCR5 Genopedia 1 0
    IKZF4 Genopedia 1 1
    SILV Genopedia 1 0
    SKIV2L Genopedia 1 0
    SLA Genopedia 1 1
    DDX6 Genopedia 1 0
    DEFB1 Genopedia 1 0
    AGA Genopedia 1 0
    DNAH5 Genopedia 1 0
    ADRB2 Genopedia 1 0
    ADRB3 Genopedia 1 0
    SPRED1 Genopedia 1 0
    SH2B3 Genopedia 1 1
    CDKN2A Genopedia 1 0
    ADAR Genopedia 1 0
    TOB2 Genopedia 1 1
    PDE10A Genopedia 1 0
    FGFR1OP Genopedia 1 0
    NUDT6 Genopedia 1 0
    HPS5 Genopedia 1 0
    C1QTNF6 Genopedia 1 0
    CLNK Genopedia 1 1
    CCR5 Genopedia 1 0
    FLG Genopedia 1 0
    RPGRIP1L Genopedia 1 0
    CRB1 Genopedia 1 0
    ALDH2 Genopedia 1 0
    TPCN2 Genopedia 1 0
    FGFR2 Genopedia 1 0
    AHR Genopedia 1 0
    ENG Genopedia 1 0
    PARP1 Genopedia 1 0
    SLC38A8 Genopedia 1 0
    APEX1 Genopedia 1 0
    ICA1 Genopedia 1 0
    ICAM1 Genopedia 1 0
    IFNE Genopedia 1 0
    IFNAR1 Genopedia 1 0
    HMOX1 Genopedia 1 0
    IL1B Genopedia 1 1
    HLA-E Genopedia 1 0
    HLA-F Genopedia 1 0
    HFE Genopedia 1 0
    HGF Genopedia 1 0
    FOXP1 Genopedia 1 0
    GNAI3 Genopedia 1 0
    GNAQ Genopedia 1 0
    GPX1 Genopedia 1 1
    RALY Genopedia 1 0
    STRN3 Genopedia 1 0
    RNASET2 Genopedia 1 0
    STK19 Genopedia 1 0
    AP3B1 Genopedia 1 0
    CASP7 Genopedia 1 1
    CD80 Genopedia 1 1
    CD44 Genopedia 1 1
    CDH1 Genopedia 1 0
    WNT3A Genopedia 1 0
    VEGFA Genopedia 1 0
    CORO2A Genopedia 1 0
    TP53 Genopedia 1 0
    C2 Genopedia 1 0
    C4A Genopedia 1 0
    TSC2 Genopedia 1 0
    XRCC2 Genopedia 1 0
    MLPH Genopedia 1 0
    RDBP Genopedia 1 0
    HPS6 Genopedia 1 0
    FBXO11 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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