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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Retinal Diseases

597 genes has been reported with Retinal Diseases
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Associated Gene
Total Publication
Meta-analysis Publication
    CFH Genopedia 196 6
    ARMS2 Genopedia 102 6
    VEGFA Genopedia 89 9
    HTRA1 Genopedia 67 4
    MTHFR Genopedia 51 9
    APOE Genopedia 39 3
    ACE Genopedia 36 5
    ABCA4 Genopedia 35 3
    CFB Genopedia 34 1
    C3 Genopedia 33 2
    NOS3 Genopedia 28 5
    C2 Genopedia 25 1
    USH2A Genopedia 24 1
    RB1 Genopedia 23 1
    TNF Genopedia 23 1
    F5 Genopedia 23 2
    F2 Genopedia 21 2
    RHO Genopedia 20 0
    AKR1B1 Genopedia 18 0
    PRPH2 Genopedia 16 0
    PON1 Genopedia 16 2
    SERPINE1 Genopedia 16 3
    IL6 Genopedia 15 0
    KDR Genopedia 15 1
    VEGF Genopedia 15 9
    FZD4 Genopedia 13 0
    IL10 Genopedia 13 1
    RPGR Genopedia 13 0
    SOD2 Genopedia 12 2
    RAGE Genopedia 11 0
    NDP Genopedia 11 0
    TLR4 Genopedia 11 0
    HLA-DRB1 Genopedia 11 1
    AGER Genopedia 11 4
    CCL2 Genopedia 11 1
    RP1 Genopedia 10 1
    PPARG Genopedia 10 3
    HLA-DQB1 Genopedia 10 1
    CRB1 Genopedia 10 0
    GUCY2D Genopedia 9 0
    HMCN1 Genopedia 9 0
    EPO Genopedia 9 2
    AGT Genopedia 9 1
    CFHR1 Genopedia 9 0
    ICAM1 Genopedia 9 3
    RP2 Genopedia 9 0
    CX3CR1 Genopedia 8 0
    SERPINF1 Genopedia 8 0
    GSTM1 Genopedia 8 0
    IFNG Genopedia 8 0
    CFHR3 Genopedia 8 0
    MYO7A Genopedia 8 1
    TGFB1 Genopedia 8 1
    RPGRIP1 Genopedia 7 0
    ITGA2 Genopedia 7 2
    PDE6B Genopedia 7 0
    HLA-B Genopedia 7 0
    VDR Genopedia 7 1
    IL8 Genopedia 7 0
    HLA-A Genopedia 7 1
    TIMP3 Genopedia 7 1
    PCDH15 Genopedia 7 0
    IMPDH1 Genopedia 7 0
    PRPF31 Genopedia 7 0
    ELOVL4 Genopedia 7 1
    CFI Genopedia 7 2
    CEP290 Genopedia 7 0
    CFHR5 Genopedia 6 0
    RPE65 Genopedia 6 1
    AGTR1 Genopedia 6 1
    IL1B Genopedia 6 0
    TSPAN12 Genopedia 6 0
    NR2E3 Genopedia 6 0
    GSTT1 Genopedia 6 0
    CRX Genopedia 6 0
    LRP5 Genopedia 6 0
    LTA Genopedia 6 0
    MDM2 Genopedia 6 0
    LIPC Genopedia 6 2
    GPR98 Genopedia 6 0
    ADIPOQ Genopedia 6 0
    SLC2A1 Genopedia 5 1
    SERPING1 Genopedia 5 0
    GSTP1 Genopedia 5 0
    ITGB3 Genopedia 5 1
    PLEKHA1 Genopedia 5 1
    BEST1 Genopedia 5 0
    EYS Genopedia 5 0
    CFHR4 Genopedia 5 0
    MMP2 Genopedia 5 0
    TCF7L2 Genopedia 5 0
    TLR3 Genopedia 5 1
    RS1 Genopedia 5 1
    TULP1 Genopedia 5 0
    CLRN1 Genopedia 5 0
    INS Genopedia 5 1
    USH1C Genopedia 5 0
    ABCA1 Genopedia 5 0
    HFE Genopedia 5 0
    CNGB3 Genopedia 4 1
    FGB Genopedia 4 1
    COL2A1 Genopedia 4 0
    FLT1 Genopedia 4 1
    AIPL1 Genopedia 4 0
    FBLN5 Genopedia 4 0
    HIF1A Genopedia 4 0
    NOS2A Genopedia 4 0
    CCL5 Genopedia 4 0
    CFHR2 Genopedia 4 0
    TP53 Genopedia 4 0
    PRPF3 Genopedia 4 0
    LOXL1 Genopedia 4 0
    CETP Genopedia 4 1
    RDH12 Genopedia 4 1
    USH1G Genopedia 4 0
    CRP Genopedia 4 0
    HLA-DQA1 Genopedia 4 1
    FGF2 Genopedia 4 1
    TRNL1 Genopedia 4 0
    MMP9 Genopedia 4 0
    TOPORS Genopedia 4 0
    F13A1 Genopedia 4 1
    F13B Genopedia 4 0
    MTR Genopedia 4 0
    XRCC1 Genopedia 3 0
    BDNF Genopedia 3 1
    ALDH2 Genopedia 3 0
    KCNV2 Genopedia 3 0
    CNGB1 Genopedia 3 0
    CYBA Genopedia 3 0
    ESR1 Genopedia 3 0
    GNAT1 Genopedia 3 0
    ABCC6 Genopedia 3 0
    IQCB1 Genopedia 3 0
    IL10RA Genopedia 3 0
    VLDLR Genopedia 3 0
    HP Genopedia 3 0
    FSCN2 Genopedia 3 0
    STK38 Genopedia 3 0
    RDS Genopedia 3 0
    SKIV2L Genopedia 3 0
    VKORC1 Genopedia 3 0
    TNFRSF10A Genopedia 3 0
    UCP1 Genopedia 3 0
    IGF1 Genopedia 3 0
    NPY Genopedia 3 1
    NRL Genopedia 3 0
    EFEMP1 Genopedia 3 0
    PRPF8 Genopedia 3 0
    GNB3 Genopedia 3 0
    ANGPT2 Genopedia 3 0
    DFNB31 Genopedia 3 0
    CHM Genopedia 3 1
    PDE6A Genopedia 3 0
    OGG1 Genopedia 3 0
    RGR Genopedia 3 0
    MERTK Genopedia 3 1
    CNGA3 Genopedia 3 1
    UCP2 Genopedia 3 0
    MTRR Genopedia 3 0
    PON2 Genopedia 3 2
    IL18 Genopedia 3 0
    CNGA1 Genopedia 3 0
    EDN1 Genopedia 3 0
    C1QTNF5 Genopedia 3 0
    LPL Genopedia 3 1
    CACNA1F Genopedia 3 0
    CXCL12 Genopedia 3 0
    CDH23 Genopedia 3 0
    SLC7A14 Genopedia 2 0
    FAM161A Genopedia 2 0
    PROM1 Genopedia 2 0
    LIPG Genopedia 2 0
    LRP6 Genopedia 2 0
    PAX6 Genopedia 2 0
    CABP4 Genopedia 2 0
    CCR5 Genopedia 2 0
    RPGRIP1L Genopedia 2 0
    ADRB3 Genopedia 2 1
    PPARGC1A Genopedia 2 0
    CAPN10 Genopedia 2 0
    CDKN1A Genopedia 2 0
    CYP1A1 Genopedia 2 0
    CYP46A1 Genopedia 2 0
    CERKL Genopedia 2 0
    BBS2 Genopedia 2 0
    SELP Genopedia 2 0
    VEGFC Genopedia 2 0
    C7 Genopedia 2 0
    COL11A1 Genopedia 2 0
    IGF1R Genopedia 2 0
    IL1A Genopedia 2 0
    NYX Genopedia 2 0
    MMP7 Genopedia 2 0
    RP1L1 Genopedia 2 0
    CAT Genopedia 2 0
    UNC119 Genopedia 2 0
    NFKB1 Genopedia 2 0
    SELE Genopedia 2 0
    LRAT Genopedia 2 0
    LCA5 Genopedia 2 0
    FBN1 Genopedia 2 0
    F8 Genopedia 2 0
    ABHD12 Genopedia 2 0
    GLO1 Genopedia 2 0
    WDHD1 Genopedia 2 0
    GUCA1A Genopedia 2 0
    C9 Genopedia 2 0
    RP9 Genopedia 2 0
    ND6 Genopedia 2 0
    BBS1 Genopedia 2 0
    ND4 Genopedia 2 0
    C4BPA Genopedia 2 0
    ERCC6 Genopedia 2 0
    CCR2 Genopedia 2 0
    RLBP1 Genopedia 2 0
    SAG Genopedia 2 0
    NMNAT1 Genopedia 2 0
    GUCA1B Genopedia 2 0
    AR Genopedia 2 0
    CHN2 Genopedia 2 0
    PARP1 Genopedia 2 0
    PTPN22 Genopedia 2 0
    EPHX1 Genopedia 2 0
    CA4 Genopedia 2 0
    COLEC12 Genopedia 2 0
    CDHR1 Genopedia 2 1
    RDH5 Genopedia 2 0
    AKR1B10 Genopedia 2 0
    KIF11 Genopedia 2 0
    COL9A1 Genopedia 2 0
    ELN Genopedia 2 0
    EPAS1 Genopedia 2 0
    CST3 Genopedia 2 0
    HNF4A Genopedia 2 0
    APOA1 Genopedia 2 0
    IL1RN Genopedia 2 0
    IL4 Genopedia 2 0
    TIMP2 Genopedia 2 0
    API5 Genopedia 2 0
    ITGB2 Genopedia 2 0
    ITGA2B Genopedia 2 0
    HTR1A Genopedia 2 0
    GRM6 Genopedia 2 0
    PROCR Genopedia 2 0
    RORA Genopedia 2 0
    VIP Genopedia 2 1
    C5 Genopedia 2 0
    MUTYH Genopedia 2 0
    NOS2 Genopedia 2 0
    OPA1 Genopedia 2 0
    P2RX7 Genopedia 1 0
    ENPP1 Genopedia 1 0
    MYO3A Genopedia 1 0
    DTHD1 Genopedia 1 0
    MAK Genopedia 1 0
    MDM4 Genopedia 1 0
    MELAS Genopedia 1 0
    MSH2 Genopedia 1 0
    BAX Genopedia 1 0
    BBS4 Genopedia 1 0
    RET Genopedia 1 0
    ROM1 Genopedia 1 0
    KIR2DS2 Genopedia 1 0
    KIR2DS3 Genopedia 1 0
    C10orf2 Genopedia 1 0
    ADAMTS9 Genopedia 1 0
    UNG Genopedia 1 0
    C4BPB Genopedia 1 0
    VIPR2 Genopedia 1 0
    RDBP Genopedia 1 0
    SOD1 Genopedia 1 0
    TIAM1 Genopedia 1 1
    SORD Genopedia 1 0
    STAT3 Genopedia 1 0
    CLN3 Genopedia 1 0
    NAT2 Genopedia 1 0
    SH2D3A Genopedia 1 1
    CIB2 Genopedia 1 0
    CD55 Genopedia 1 0
    COL8A1 Genopedia 1 0
    CRYBB3 Genopedia 1 0
    AGTR2 Genopedia 1 0
    ERCC2 Genopedia 1 0
    AKT1 Genopedia 1 0
    KIAA1009 Genopedia 1 1
    SNRNP200 Genopedia 1 0
    FPR1 Genopedia 1 0
    OSBP2 Genopedia 1 0
    TXN2 Genopedia 1 1
    HLA-C Genopedia 1 0
    IRS2 Genopedia 1 0
    GORAB Genopedia 1 0
    CD36 Genopedia 1 0
    IGFBP7 Genopedia 1 0
    IDUA Genopedia 1 0
    RD3 Genopedia 1 0
    ERG Genopedia 1 0
    TMEM217 Genopedia 1 0
    VASH1 Genopedia 1 1
    FRMD3 Genopedia 1 0
    GNB1 Genopedia 1 0
    IL28B Genopedia 1 0
    NR3C1 Genopedia 1 0
    HGF Genopedia 1 0
    CYP2D6 Genopedia 1 0
    CYP11B2 Genopedia 1 0
    DHFR Genopedia 1 0
    ADCY4 Genopedia 1 0
    ROMO1 Genopedia 1 0
    COL15A1 Genopedia 1 0
    COX8A Genopedia 1 0
    CR1 Genopedia 1 0
    CR2 Genopedia 1 0
    TXNIP Genopedia 1 1
    SERPINA3 Genopedia 1 0
    KRAS Genopedia 1 0
    RGS9BP Genopedia 1 0
    FADS1 Genopedia 1 0
    LOX Genopedia 1 0
    MGST1 Genopedia 1 0
    MYOC Genopedia 1 0
    NHP2L1 Genopedia 1 0
    NPY2R Genopedia 1 0
    TNFRSF11B Genopedia 1 0
    PAX3 Genopedia 1 0
    ZNF219 Genopedia 1 0
    TLR7 Genopedia 1 0
    SFRS15 Genopedia 1 0
    KIDINS220 Genopedia 1 0
    KIAA1549 Genopedia 1 0
    ACE2 Genopedia 1 0
    RFC1 Genopedia 1 0
    BCL2L2 Genopedia 1 0
    ND5 Genopedia 1 0
    C8B Genopedia 1 0
    ITGAM Genopedia 1 0
    ND1 Genopedia 1 0
    LOC100616530 Genopedia 1 0
    PECAM1 Genopedia 1 0
    AHI1 Genopedia 1 0
    PCDH21 Genopedia 1 1
    ROCK2 Genopedia 1 0
    ABCG1 Genopedia 1 0
    SUV39H2 Genopedia 1 1
    ZNF408 Genopedia 1 0
    SETD7 Genopedia 1 1
    CARS Genopedia 1 0
    ARL6 Genopedia 1 0
    ZNRF1 Genopedia 1 0
    TSC22D1 Genopedia 1 0
    PROZ Genopedia 1 0
    Slc4a3 Genopedia 1 0
    FLT4 Genopedia 1 0
    FGG Genopedia 1 0
    RIMS1 Genopedia 1 0
    BBS9 Genopedia 1 0
    IL1R1 Genopedia 1 0
    ADORA2A Genopedia 1 0
    CYP1A2 Genopedia 1 0
    DAD1 Genopedia 1 0
    EGFR Genopedia 1 0
    CDH5 Genopedia 1 0
    IFNL4 Genopedia 1 0
    CLU Genopedia 1 0
    CMA1 Genopedia 1 0
    CCR2 Genopedia 1 0
    MLH1 Genopedia 1 0
    MMP1 Genopedia 1 0
    MYCN Genopedia 1 0
    NOS1 Genopedia 1 0
    PCSK2 Genopedia 1 0
    CC2D1A Genopedia 1 0
    BBS7 Genopedia 1 0
    RCBTB1 Genopedia 1 0
    C3orf10 Genopedia 1 0
    PSEN1 Genopedia 1 0
    RBP1 Genopedia 1 0
    GDF6 Genopedia 1 0
    ROBO1 Genopedia 1 0
    RXRG Genopedia 1 0
    TSC2 Genopedia 1 0
    C6 Genopedia 1 0
    TNFRSF1B Genopedia 1 0
    SRI Genopedia 1 0
    SS18 Genopedia 1 1
    ACBD5 Genopedia 1 0
    SCARB1 Genopedia 1 0
    DHDDS Genopedia 1 0
    ARMD1 Genopedia 1 0
    LDB2 Genopedia 1 1
    RBP3 Genopedia 1 0
    RELA Genopedia 1 0
    CDKAL1 Genopedia 1 0
    MIOX Genopedia 1 0
    PSMD9 Genopedia 1 0
    PTEN Genopedia 1 0
    SUV39H1 Genopedia 1 1
    RPS6KA3 Genopedia 1 0
    C5AR1 Genopedia 1 0
    VTN Genopedia 1 0
    PRPF4 Genopedia 1 0
    CACNA2D4 Genopedia 1 0
    HDAC9 Genopedia 1 1
    TECPR2 Genopedia 1 1
    DMTF1 Genopedia 1 0
    LPCAT1 Genopedia 1 0
    NR4A3 Genopedia 1 0
    OPA3 Genopedia 1 0
    SLC19A3 Genopedia 1 1
    MKKS Genopedia 1 0
    TXNRD2 Genopedia 1 1
    ICAM4 Genopedia 1 1
    C10orf112 Genopedia 1 0
    LEKR1 Genopedia 1 0
    LAMC1 Genopedia 1 0
    SMAD7 Genopedia 1 0
    CD46 Genopedia 1 0
    BFAR Genopedia 1 0
    PDC Genopedia 1 0
    PIK3CG Genopedia 1 0
    POLR2B Genopedia 1 0
    ND6 Genopedia 1 0
    CTLA4 Genopedia 1 0
    CYP3A5 Genopedia 1 0
    GPR125 Genopedia 1 0
    DRD4 Genopedia 1 0
    GRIK2 Genopedia 1 0
    ZWINT Genopedia 1 0
    FGL1 Genopedia 1 0
    KIAA0090 Genopedia 1 0
    G6PD Genopedia 1 0
    ASPM Genopedia 1 0
    GJB2 Genopedia 1 0
    GCLC Genopedia 1 0
    GSTM5 Genopedia 1 0
    CERS2 Genopedia 1 1
    HLA-DPB1 Genopedia 1 0
    SDS Genopedia 1 0
    APOB Genopedia 1 0
    ARL4D Genopedia 1 0
    KIR2DL1 Genopedia 1 0
    KIR3DL1 Genopedia 1 0
    KIR3DS1 Genopedia 1 0
    C2orf71 Genopedia 1 0
    LRP2 Genopedia 1 1
    MICA Genopedia 1 0
    MMP3 Genopedia 1 0
    ND2 Genopedia 1 0
    ND4 Genopedia 1 1
    GAS6 Genopedia 1 0
    GCK Genopedia 1 0
    GJA8 Genopedia 1 0
    FBLN1 Genopedia 1 0
    NCR3 Genopedia 1 0
    FBN2 Genopedia 1 0
    FGA Genopedia 1 0
    FIGF Genopedia 1 0
    AHR Genopedia 1 0
    CKB Genopedia 1 0
    ADM Genopedia 1 0
    CEP135 Genopedia 1 0
    TF Genopedia 1 0
    MASP1 Genopedia 1 0
    PSEN2 Genopedia 1 0
    OCA2 Genopedia 1 0
    PAX2 Genopedia 1 0
    PGF Genopedia 1 0
    PIK3CA Genopedia 1 0
    PLAT Genopedia 1 0
    C8A Genopedia 1 0
    UCHL3 Genopedia 1 1
    VEGFB Genopedia 1 0
    VHL Genopedia 1 0
    VWF Genopedia 1 0
    WRN Genopedia 1 0
    CA1 Genopedia 1 0
    SYN3 Genopedia 1 0
    C4orf14 Genopedia 1 0
    SDPR Genopedia 1 1
    PLXDC2 Genopedia 1 1
    APLN Genopedia 1 0
    EFTUD2 Genopedia 1 0
    HNF1A Genopedia 1 0
    TSC1 Genopedia 1 0
    TSTA3 Genopedia 1 1
    TTPA Genopedia 1 0
    TXN Genopedia 1 1
    TYMS Genopedia 1 0
    ALMS1 Genopedia 1 0
    OXA1L Genopedia 1 0
    ERAP2 Genopedia 1 1
    SLC12A3 Genopedia 1 0
    SNRPB Genopedia 1 0
    MYO15A Genopedia 1 0
    PDE6C Genopedia 1 0
    TMEM63B Genopedia 1 0
    FGD6 Genopedia 1 0
    PRKCB Genopedia 1 0
    PVT1 Genopedia 1 0
    REST Genopedia 1 0
    IRF5 Genopedia 1 0
    MIR126 Genopedia 1 0
    MET Genopedia 1 0
    MITF Genopedia 1 0
    MYT1L Genopedia 1 0
    CLUAP1 Genopedia 1 0
    MYRIP Genopedia 1 0
    HGSNAT Genopedia 1 0
    CNR1 Genopedia 1 0
    GJB6 Genopedia 1 0
    HPSE Genopedia 1 1
    TTC8 Genopedia 1 0
    SALL2 Genopedia 1 0
    C21orf2 Genopedia 1 0
    LST1 Genopedia 1 0
    TNMD Genopedia 1 0
    SEMA4A Genopedia 1 0
    BMP2 Genopedia 1 0
    ND1 Genopedia 1 0
    TRAF2 Genopedia 1 0
    C3AR1 Genopedia 1 0
    C4A Genopedia 1 0
    PLA2G12A Genopedia 1 0
    DUOXA1 Genopedia 1 0
    CD59 Genopedia 1 0
    IFT140 Genopedia 1 0
    TBC1D4 Genopedia 1 1
    KCNJ11 Genopedia 1 0
    LOC389641 Genopedia 1 0
    LAMC2 Genopedia 1 0
    MMP14 Genopedia 1 0
    ATP6 Genopedia 1 0
    APOC3 Genopedia 1 0
    CPVL Genopedia 1 0
    MUDENG Genopedia 1 0
    SPATA7 Genopedia 1 0
    OPN1SW Genopedia 1 0
    CYP2C19 Genopedia 1 0
    CYP2E1 Genopedia 1 0
    ELAVL4 Genopedia 1 0
    A2M Genopedia 1 0
    AMD1 Genopedia 1 0
    GPX1 Genopedia 1 0
    IGF2BP2 Genopedia 1 0
    KLHDC7A Genopedia 1 0
    Erg Genopedia 1 0
    Grb2 Genopedia 1 1
    C1QTNF1 Genopedia 1 0
    UTS2 Genopedia 1 0
    CDH13 Genopedia 1 0
    OPTN Genopedia 1 0
    IRF9 Genopedia 1 0
    SMC2 Genopedia 1 0
    MASP2 Genopedia 1 0
    FTCD Genopedia 1 1
    CYP19A1 Genopedia 1 0
    COMMD6 Genopedia 1 1
    BBS5 Genopedia 1 0
    IL23R Genopedia 1 0
    CTNNB1 Genopedia 1 0
    SMUG1 Genopedia 1 0
    FNDC5 Genopedia 1 0
    C20orf4 Genopedia 1 0
    GNAT2 Genopedia 1 0
    GPX4 Genopedia 1 0
    ADH1B Genopedia 1 0
    F12 Genopedia 1 0
    TRIM32 Genopedia 1 0
    APP Genopedia 1 0
    MRPS35P3 Genopedia 1 0
    INSR Genopedia 1 0
    KIR2DS1 Genopedia 1 0
    KIR2DS4 Genopedia 1 0
    SUMO4 Genopedia 1 0
    LAMB3 Genopedia 1 0
    CCNL1 Genopedia 1 0
    PTPN1 Genopedia 1 0
    MYO5C Genopedia 1 0
    KLHL7 Genopedia 1 0
    OPN1LW Genopedia 1 0
    BCL2 Genopedia 1 0
    RFX5 Genopedia 1 0
    PDR Genopedia 1 0
    ABCB1 Genopedia 1 0
    PLXNA2 Genopedia 1 0
    POLG Genopedia 1 0
    MBL2 Genopedia 1 0
    MFGE8 Genopedia 1 0
    NEUROD1 Genopedia 1 0
    IGSF21 Genopedia 1 0
    BBS10 Genopedia 1 0
    ARHGAP22 Genopedia 1 0
    CCT3 Genopedia 1 0
    C4B Genopedia 1 0
    SP4 Genopedia 1 0
    TFR2 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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