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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Blindness

405 genes has been reported with Blindness
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Associated Gene
Total Publication
Meta-analysis Publication
    CFH Genopedia 35 3
    ARMS2 Genopedia 22 1
    HTRA1 Genopedia 11 0
    VEGFA Genopedia 10 0
    C3 Genopedia 10 0
    USH2A Genopedia 9 1
    MYOC Genopedia 8 0
    ABCA4 Genopedia 7 0
    CYP1B1 Genopedia 7 0
    APOE Genopedia 7 2
    ACE Genopedia 6 0
    LOXL1 Genopedia 5 1
    CDKN2B-AS1 Genopedia 5 1
    MTHFR Genopedia 5 1
    TNF Genopedia 5 1
    NYX Genopedia 5 0
    SIX6 Genopedia 5 2
    OPTN Genopedia 4 1
    RPE65 Genopedia 4 0
    CEP290 Genopedia 4 0
    RPGR Genopedia 4 0
    CHM Genopedia 4 0
    TMCO1 Genopedia 4 0
    CETP Genopedia 4 0
    KDR Genopedia 4 0
    CRB1 Genopedia 4 0
    GJD2 Genopedia 3 1
    TGFB1 Genopedia 3 0
    VEGF Genopedia 3 0
    LIPC Genopedia 3 0
    LMX1B Genopedia 3 0
    GRM6 Genopedia 3 0
    MMP9 Genopedia 3 0
    MYO7A Genopedia 3 0
    PDE6B Genopedia 3 0
    HLA-B Genopedia 3 0
    RDH12 Genopedia 3 0
    GSTM1 Genopedia 3 0
    NDP Genopedia 3 0
    CFB Genopedia 3 0
    CAV1 Genopedia 3 0
    CSF2 Genopedia 3 0
    F5 Genopedia 3 0
    CRYAA Genopedia 3 1
    PON1 Genopedia 3 0
    PCDH15 Genopedia 3 0
    PCMTD1 Genopedia 3 1
    TAS2R38 Genopedia 3 0
    ST18 Genopedia 3 1
    ABCA1 Genopedia 3 1
    PLEKHA7 Genopedia 3 1
    RB1 Genopedia 3 0
    RHO Genopedia 3 0
    C2 Genopedia 3 0
    CACNA1F Genopedia 2 0
    RASGRF1 Genopedia 2 1
    CABP4 Genopedia 2 0
    CXCL12 Genopedia 2 0
    LRP6 Genopedia 2 0
    CFI Genopedia 2 0
    FBLN5 Genopedia 2 0
    CYP46A1 Genopedia 2 0
    TULP1 Genopedia 2 0
    AIPL1 Genopedia 2 0
    CD59 Genopedia 2 0
    CLRN1 Genopedia 2 0
    MERTK Genopedia 2 0
    TIMP1 Genopedia 2 0
    COL10A1 Genopedia 2 0
    COL11A1 Genopedia 2 1
    IL1A Genopedia 2 0
    CAV2 Genopedia 2 0
    GJA8 Genopedia 2 0
    MASP1 Genopedia 2 0
    IL1B Genopedia 2 0
    OGG1 Genopedia 2 0
    ABHD12 Genopedia 2 0
    TBK1 Genopedia 2 0
    TF Genopedia 2 0
    TLR4 Genopedia 2 1
    CDKN2B Genopedia 2 0
    CD46 Genopedia 2 0
    TNFRSF10A Genopedia 2 0
    PPARG Genopedia 2 0
    PRSS56 Genopedia 2 1
    ND6 Genopedia 2 1
    CDKN2A Genopedia 2 0
    AFAP1 Genopedia 2 1
    MMP1 Genopedia 2 0
    SKIV2L Genopedia 2 1
    SRI Genopedia 2 0
    ND4 Genopedia 2 1
    GSTT1 Genopedia 2 0
    EGFR Genopedia 2 0
    IL8 Genopedia 2 0
    F2 Genopedia 2 0
    AKR1B1 Genopedia 2 0
    CRX Genopedia 2 0
    VLDLR Genopedia 2 0
    GUCY2D Genopedia 2 0
    F13A1 Genopedia 2 0
    COL8A1 Genopedia 2 0
    CD55 Genopedia 2 0
    MUTYH Genopedia 2 0
    XRCC1 Genopedia 2 0
    SERPING1 Genopedia 2 1
    RPGRIP1 Genopedia 2 0
    MAP3K1 Genopedia 2 0
    C5 Genopedia 2 0
    GPR98 Genopedia 2 0
    MADD Genopedia 1 0
    RAB9BP1 Genopedia 1 1
    MUC16 Genopedia 1 0
    CD36 Genopedia 1 0
    IQCB1 Genopedia 1 0
    MTR Genopedia 1 0
    FNDC3B Genopedia 1 0
    SIX1 Genopedia 1 1
    SLC2A1 Genopedia 1 1
    SOD2 Genopedia 1 0
    SORD Genopedia 1 0
    STAT3 Genopedia 1 0
    C4BPB Genopedia 1 0
    TIAM1 Genopedia 1 1
    SLC44A4 Genopedia 1 0
    HMCN1 Genopedia 1 0
    MYP1 Genopedia 1 0
    NOS2 Genopedia 1 0
    OPA1 Genopedia 1 0
    P2RX7 Genopedia 1 0
    POMP Genopedia 1 0
    PON3 Genopedia 1 0
    Calcrl Genopedia 1 0
    DTHD1 Genopedia 1 0
    HLA-C Genopedia 1 0
    IL4R Genopedia 1 0
    ITGB2 Genopedia 1 0
    KCNV2 Genopedia 1 0
    ERCC2 Genopedia 1 0
    ESR1 Genopedia 1 0
    MACROD2 Genopedia 1 0
    CRYBB1 Genopedia 1 0
    ADRB2 Genopedia 1 0
    CNGB1 Genopedia 1 0
    GNAT1 Genopedia 1 0
    HBB Genopedia 1 0
    GSTP1 Genopedia 1 0
    PCDH21 Genopedia 1 0
    ADCY4 Genopedia 1 0
    ELN Genopedia 1 0
    CCDC111 Genopedia 1 0
    SIRT1 Genopedia 1 0
    RBMS3 Genopedia 1 0
    IL28B Genopedia 1 0
    GRIA4 Genopedia 1 1
    OBP2A Genopedia 1 0
    HGF Genopedia 1 1
    HMOX2 Genopedia 1 0
    RD3 Genopedia 1 0
    IGFBP7 Genopedia 1 0
    IL4 Genopedia 1 0
    IL10 Genopedia 1 0
    ITGAM Genopedia 1 0
    KRAS Genopedia 1 0
    FADS1 Genopedia 1 0
    LTA Genopedia 1 0
    MEF2C Genopedia 1 0
    MGST1 Genopedia 1 0
    AHI1 Genopedia 1 0
    KCNQ5 Genopedia 1 1
    PTGDR Genopedia 1 0
    KIAA1549 Genopedia 1 0
    PLEKHA1 Genopedia 1 0
    RDH5 Genopedia 1 1
    BCL2L2 Genopedia 1 0
    TGFBR3 Genopedia 1 0
    C8B Genopedia 1 0
    SCGB1A1 Genopedia 1 0
    VDR Genopedia 1 0
    MYP2 Genopedia 1 0
    ZNF219 Genopedia 1 0
    DDX20 Genopedia 1 0
    XPOT Genopedia 1 0
    SERPINA3 Genopedia 1 0
    COL9A1 Genopedia 1 0
    COL15A1 Genopedia 1 0
    CR1 Genopedia 1 0
    CR2 Genopedia 1 0
    SLC16A8 Genopedia 1 0
    PTPN22 Genopedia 1 0
    GMDS Genopedia 1 1
    RASSF3 Genopedia 1 0
    RNF149 Genopedia 1 0
    MS4A2 Genopedia 1 0
    FGG Genopedia 1 0
    ALDOB Genopedia 1 0
    CYP1A2 Genopedia 1 0
    DAD1 Genopedia 1 0
    NR2E3 Genopedia 1 0
    IFNL4 Genopedia 1 0
    SEPT9 Genopedia 1 0
    CLU Genopedia 1 0
    CMA1 Genopedia 1 0
    CCR2 Genopedia 1 0
    CCR3 Genopedia 1 0
    CRP Genopedia 1 0
    IL17A Genopedia 1 0
    JUN Genopedia 1 0
    ERCC6 Genopedia 1 0
    HLA-A Genopedia 1 0
    HP Genopedia 1 0
    NOTCH4 Genopedia 1 0
    P2RY2 Genopedia 1 0
    PCSK2 Genopedia 1 0
    PLTP Genopedia 1 0
    PSEN1 Genopedia 1 0
    PAK7 Genopedia 1 0
    RLBP1 Genopedia 1 0
    TCF7 Genopedia 1 0
    C4BPA Genopedia 1 0
    C6 Genopedia 1 0
    CCR2 Genopedia 1 0
    SS18 Genopedia 1 1
    SLC2A3 Genopedia 1 1
    NAP1L4 Genopedia 1 0
    GLC3C Genopedia 1 0
    SAG Genopedia 1 0
    CACNA1A Genopedia 1 0
    AP3B2 Genopedia 1 0
    KCTD10 Genopedia 1 0
    FAM125B Genopedia 1 1
    LDB2 Genopedia 1 1
    ACBD5 Genopedia 1 0
    CD68 Genopedia 1 0
    TGFB2 Genopedia 1 0
    TIMP3 Genopedia 1 0
    C5AR1 Genopedia 1 0
    TULP3 Genopedia 1 0
    C9 Genopedia 1 0
    VTN Genopedia 1 0
    KCNAB1 Genopedia 1 1
    CDC7 Genopedia 1 0
    FSCB Genopedia 1 0
    ZNF644 Genopedia 1 0
    CACNA2D4 Genopedia 1 0
    NRL Genopedia 1 0
    BFAR Genopedia 1 0
    POLR2B Genopedia 1 0
    TRPM1 Genopedia 1 0
    IL9 Genopedia 1 0
    BLID Genopedia 1 1
    CTLA4 Genopedia 1 0
    CNTN4 Genopedia 1 0
    CRISP3 Genopedia 1 0
    WDHD1 Genopedia 1 0
    GPR125 Genopedia 1 0
    TCTE1 Genopedia 1 0
    EFEMP1 Genopedia 1 0
    FGL1 Genopedia 1 0
    KIAA0090 Genopedia 1 0
    GJB2 Genopedia 1 0
    HLA-DQB1 Genopedia 1 0
    C10orf112 Genopedia 1 0
    EYS Genopedia 1 0
    C8A Genopedia 1 0
    UCHL3 Genopedia 1 0
    CNBP Genopedia 1 0
    C4orf14 Genopedia 1 0
    ZNF469 Genopedia 1 1
    DAPL1 Genopedia 1 0
    LRAT Genopedia 1 0
    CD14 Genopedia 1 0
    CARTPT Genopedia 1 0
    ICOS Genopedia 1 0
    CERS2 Genopedia 1 1
    HLA-DRB1 Genopedia 1 0
    GAS6 Genopedia 1 0
    CTNND2 Genopedia 1 0
    LCA5 Genopedia 1 0
    FBLN1 Genopedia 1 0
    FBN2 Genopedia 1 0
    FGA Genopedia 1 0
    ALK Genopedia 1 0
    DFNB31 Genopedia 1 0
    CCDC101 Genopedia 1 1
    CKB Genopedia 1 0
    WDR36 Genopedia 1 0
    PAX2 Genopedia 1 0
    PDE6A Genopedia 1 0
    CFP Genopedia 1 0
    KCNMB1 Genopedia 1 0
    KIR2DL3 Genopedia 1 0
    LOC399959 Genopedia 1 1
    LRP2 Genopedia 1 0
    MAPT Genopedia 1 0
    MMP3 Genopedia 1 0
    PSEN2 Genopedia 1 0
    SEMA6A Genopedia 1 0
    RAD51B Genopedia 1 0
    SELE Genopedia 1 0
    GLO1 Genopedia 1 0
    ACTC1 Genopedia 1 0
    SQSTM1 Genopedia 1 0
    C1QTNF9B Genopedia 1 0
    LAMA2 Genopedia 1 1
    OXA1L Genopedia 1 0
    SERPINE1 Genopedia 1 0
    MYO15A Genopedia 1 0
    PDE6C Genopedia 1 0
    Ramp2 Genopedia 1 0
    FGD6 Genopedia 1 0
    FABP2 Genopedia 1 0
    MYRIP Genopedia 1 1
    PRPF31 Genopedia 1 0
    DTWD2 Genopedia 1 0
    HSP90AA1 Genopedia 1 0
    LRIT3 Genopedia 1 0
    IGF1R Genopedia 1 0
    TSTA3 Genopedia 1 1
    CCL11 Genopedia 1 0
    FKBPL Genopedia 1 0
    GJB6 Genopedia 1 0
    NR1H3 Genopedia 1 0
    TRIB1 Genopedia 1 0
    REST Genopedia 1 0
    RGR Genopedia 1 0
    C12orf56 Genopedia 1 0
    C21orf2 Genopedia 1 0
    ANKRD55 Genopedia 1 0
    HMGA2 Genopedia 1 0
    CYP4F2 Genopedia 1 0
    TBC1D4 Genopedia 1 0
    IL5RA Genopedia 1 0
    INS Genopedia 1 0
    CERKL Genopedia 1 0
    KIR2DL2 Genopedia 1 0
    LOC389641 Genopedia 1 0
    MIPEP Genopedia 1 0
    MMP12 Genopedia 1 0
    MMP14 Genopedia 1 0
    GPR179 Genopedia 1 0
    MTRR Genopedia 1 0
    NOS2A Genopedia 1 0
    NOS3 Genopedia 1 0
    NTF4 Genopedia 1 0
    OXTR Genopedia 1 0
    P2RX4 Genopedia 1 0
    PON2 Genopedia 1 0
    PTCHD2 Genopedia 1 0
    PRX Genopedia 1 0
    C7 Genopedia 1 0
    LOC100508689 Genopedia 1 0
    USH1C Genopedia 1 0
    SALL2 Genopedia 1 0
    CCL2 Genopedia 1 0
    SELP Genopedia 1 0
    LHPP Genopedia 1 0
    BMP2 Genopedia 1 1
    ND1 Genopedia 1 1
    CNGA1 Genopedia 1 0
    Grb2 Genopedia 1 1
    CYP2C19 Genopedia 1 0
    DMBT1 Genopedia 1 0
    EPHA2 Genopedia 1 0
    A2M Genopedia 1 0
    TMEM136 Genopedia 1 0
    ATOH7 Genopedia 1 1
    FGFR2 Genopedia 1 0
    APP Genopedia 1 0
    IL6 Genopedia 1 0
    IL13 Genopedia 1 0
    LPL Genopedia 1 0
    LTC4S Genopedia 1 0
    MEIS2 Genopedia 1 0
    POLG Genopedia 1 0
    CNGB3 Genopedia 1 0
    CDH23 Genopedia 1 0
    ZC3H11B Genopedia 1 1
    SP4 Genopedia 1 0
    TFR2 Genopedia 1 0
    TNXB Genopedia 1 0
    SLC7A14 Genopedia 1 0
    RAN Genopedia 1 0
    RFX5 Genopedia 1 0
    SLC2A14 Genopedia 1 1
    CX3CR1 Genopedia 1 0
    DMXL1 Genopedia 1 0
    COCH Genopedia 1 0
    COMMD6 Genopedia 1 0
    AGER Genopedia 1 0
    FGB Genopedia 1 0
    RPGRIP1L Genopedia 1 0
    GLC3B Genopedia 1 0
    LAMA1 Genopedia 1 0
    APEX1 Genopedia 1 0
    ICAM1 Genopedia 1 0
    IRF9 Genopedia 1 0
    AGPAT1 Genopedia 1 0
    MASP2 Genopedia 1 0
    C1QTNF1 Genopedia 1 0
    C1QTNF5 Genopedia 1 0
    CCR5 Genopedia 1 0
    CRYAB Genopedia 1 0
    FAM161A Genopedia 1 0
    RP2 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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