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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Pigmentation Disorders

197 genes has been reported with Pigmentation Disorders
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Associated Gene
Total Publication
Meta-analysis Publication
    OCA2 Genopedia 18 1
    MC1R Genopedia 15 1
    CAT Genopedia 13 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
    TNF Genopedia 8 1
    VTLG Genopedia 8 1
    TYRP1 Genopedia 8 0
    XPC Genopedia 8 1
    PTPN22 Genopedia 7 1
    GSTM1 Genopedia 7 1
    GSTT1 Genopedia 7 1
    HLA-A Genopedia 7 1
    CTLA4 Genopedia 7 3
    VDR Genopedia 7 1
    HPS1 Genopedia 7 0
    HLA-B Genopedia 6 0
    XPA Genopedia 5 0
    HLA-C Genopedia 5 1
    XRCC1 Genopedia 5 0
    NLRP1 Genopedia 5 0
    HLA-DQB1 Genopedia 5 0
    ERCC4 Genopedia 5 0
    COMT Genopedia 4 0
    HERC2 Genopedia 4 2
    ERCC1 Genopedia 4 0
    NFE2L2 Genopedia 4 0
    MTHFR Genopedia 3 0
    HLA-DQA1 Genopedia 3 0
    HPS3 Genopedia 3 0
    HLA-DRB4 Genopedia 3 1
    SMOC2 Genopedia 3 0
    BMPR1A Genopedia 3 0
    LTA Genopedia 3 0
    IFNG Genopedia 3 0
    IL1RN Genopedia 3 0
    IL10 Genopedia 3 0
    IRF4 Genopedia 3 1
    PTPN11 Genopedia 3 0
    FOXP3 Genopedia 3 0
    DDR1 Genopedia 3 0
    C12orf10 Genopedia 3 0
    EDN1 Genopedia 3 0
    SMAD4 Genopedia 3 0
    MBL2 Genopedia 3 0
    HPS4 Genopedia 3 0
    PTGS2 Genopedia 3 0
    TGFBR2 Genopedia 2 0
    ERCC3 Genopedia 2 0
    KIT Genopedia 2 0
    FOXD3 Genopedia 2 0
    PDGFRA Genopedia 2 0
    IL6 Genopedia 2 0
    KITLG Genopedia 2 0
    NF1 Genopedia 2 0
    HLA-G Genopedia 2 0
    XBP1 Genopedia 2 0
    XRCC3 Genopedia 2 0
    FOXO3 Genopedia 2 0
    CCR6 Genopedia 2 0
    DDB1 Genopedia 2 0
    OA1 Genopedia 2 0
    GPR143 Genopedia 2 0
    PSMB8 Genopedia 2 0
    FAS Genopedia 2 0
    CLEC11A Genopedia 2 0
    KRAS Genopedia 2 0
    LPP Genopedia 2 0
    IL4 Genopedia 2 0
    AIRE Genopedia 2 0
    GZMB Genopedia 2 0
    IFIH1 Genopedia 2 1
    POLH Genopedia 2 1
    TXNDC5 Genopedia 2 0
    TSLP Genopedia 2 0
    NOS2 Genopedia 2 0
    ESR1 Genopedia 2 0
    SLC24A5 Genopedia 2 0
    GSTP1 Genopedia 2 0
    SOD2 Genopedia 2 1
    TAP1 Genopedia 2 0
    SLC44A4 Genopedia 2 0
    CD4 Genopedia 2 0
    UVRAG Genopedia 2 0
    BRAF Genopedia 2 0
    IL2RA Genopedia 2 0
    RAF1 Genopedia 2 0
    PTEN Genopedia 2 0
    BACH2 Genopedia 1 1
    NPY Genopedia 1 1
    PKD2 Genopedia 1 0
    TP53 Genopedia 1 0
    XRCC2 Genopedia 1 0
    WNT3A Genopedia 1 0
    HLA-F Genopedia 1 0
    SPRED1 Genopedia 1 0
    DDX6 Genopedia 1 0
    TOB2 Genopedia 1 1
    C1QTNF6 Genopedia 1 0
    CFB Genopedia 1 0
    CXCR5 Genopedia 1 0
    SKIV2L Genopedia 1 0
    CDKN2A Genopedia 1 0
    CLNK Genopedia 1 1
    PARP1 Genopedia 1 0
    SLC38A8 Genopedia 1 0
    LAMP2 Genopedia 1 0
    LOXL1 Genopedia 1 0
    MIR196A1 Genopedia 1 0
    MIR196A2 Genopedia 1 0
    ZMIZ1 Genopedia 1 0
    TSC2 Genopedia 1 0
    DEFB1 Genopedia 1 0
    AP3B1 Genopedia 1 0
    MLPH Genopedia 1 0
    RDBP Genopedia 1 0
    ADRB2 Genopedia 1 0
    CORO2A Genopedia 1 0
    ALDH2 Genopedia 1 0
    CRB1 Genopedia 1 0
    PKD1 Genopedia 1 0
    PRF1 Genopedia 1 0
    MAP2K2 Genopedia 1 0
    RAB5B Genopedia 1 0
    SNRNP70 Genopedia 1 0
    SOD1 Genopedia 1 0
    CD80 Genopedia 1 1
    SILV Genopedia 1 0
    TERT Genopedia 1 0
    HGF Genopedia 1 0
    IFNE Genopedia 1 0
    PDE10A Genopedia 1 0
    ENG Genopedia 1 0
    RALY Genopedia 1 0
    GNAI3 Genopedia 1 0
    BRCA1 Genopedia 1 1
    BRCA2 Genopedia 1 1
    TLR4 Genopedia 1 0
    RAB27A Genopedia 1 0
    AHR Genopedia 1 0
    IL1B Genopedia 1 1
    ASIP Genopedia 1 0
    UBASH3A Genopedia 1 0
    MAP2K1 Genopedia 1 0
    HPS6 Genopedia 1 0
    FBXO11 Genopedia 1 0
    IL26 Genopedia 1 0
    AGA Genopedia 1 0
    FOXP1 Genopedia 1 0
    GNAQ Genopedia 1 0
    HLA-E Genopedia 1 0
    MITF Genopedia 1 1
    MPO Genopedia 1 0
    TLR2 Genopedia 1 0
    CD44 Genopedia 1 1
    HMOX1 Genopedia 1 0
    APEX1 Genopedia 1 0
    ICAM1 Genopedia 1 0
    IFNAR1 Genopedia 1 0
    FASLG Genopedia 1 0
    IL22 Genopedia 1 0
    CCR5 Genopedia 1 0
    ADRB3 Genopedia 1 0
    DNAH5 Genopedia 1 0
    FLG Genopedia 1 0
    RPGRIP1L Genopedia 1 0
    HFE Genopedia 1 0
    INSR Genopedia 1 0
    CDK5RAP1 Genopedia 1 0
    BNC2 Genopedia 1 0
    IKZF4 Genopedia 1 1
    SLA Genopedia 1 1
    SOD3 Genopedia 1 0
    STAT4 Genopedia 1 0
    C2 Genopedia 1 0
    CASP7 Genopedia 1 1
    RNASET2 Genopedia 1 0
    STK19 Genopedia 1 0
    CDH1 Genopedia 1 0
    GPX1 Genopedia 1 1
    STRN3 Genopedia 1 0
    ICA1 Genopedia 1 0
    SH2B3 Genopedia 1 1
    ADAR Genopedia 1 0
    FGFR1OP Genopedia 1 0
    NUDT6 Genopedia 1 0
    HPS5 Genopedia 1 0
    RERE Genopedia 1 0
    TPCN2 Genopedia 1 0
    FGFR2 Genopedia 1 0
    C4A Genopedia 1 0
    SOS1 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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