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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Rare Diseases
165 genes has been reported with Rare Diseases
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Associated Gene
Total Publication
Meta-analysis Publication
    CFH Genopedia 5 0
    VHL Genopedia 5 0
    RET Genopedia 4 0
    SDHB Genopedia 3 0
    SDHD Genopedia 3 0
    MTHFR Genopedia 3 0
    MYO7A Genopedia 2 0
    PAH Genopedia 2 0
    PCDH15 Genopedia 2 0
    SDHC Genopedia 2 0
    USH2A Genopedia 2 0
    CLRN1 Genopedia 2 0
    GPR98 Genopedia 2 0
    ACE Genopedia 2 1
    CRB1 Genopedia 2 0
    DFNB31 Genopedia 2 0
    FMR1 Genopedia 2 0
    GHR Genopedia 2 0
    GJB2 Genopedia 2 0
    HLA-B Genopedia 2 0
    ACADM Genopedia 2 0
    APOC1 Genopedia 1 0
    CFI Genopedia 1 0
    APOC2 Genopedia 1 0
    APOC4 Genopedia 1 0
    APOE Genopedia 1 0
    IL12A Genopedia 1 1
    AR Genopedia 1 0
    KCNQ2 Genopedia 1 0
    LCAT Genopedia 1 0
    LDLR Genopedia 1 0
    LHX1 Genopedia 1 0
    FADS1 Genopedia 1 0
    FADS3 Genopedia 1 0
    LRP5 Genopedia 1 0
    SMAD3 Genopedia 1 0
    MAX Genopedia 1 0
    MC1R Genopedia 1 0
    CD46 Genopedia 1 0
    HLA-DQB1 Genopedia 1 0
    HLA-DRB1 Genopedia 1 0
    HMGCR Genopedia 1 0
    APC Genopedia 1 0
    HPRT1 Genopedia 1 0
    MMAB Genopedia 1 0
    APOB Genopedia 1 0
    ANGPTL3 Genopedia 1 0
    GNAS Genopedia 1 0
    XKR6 Genopedia 1 0
    GRN Genopedia 1 0
    GUCY2D Genopedia 1 0
    GHRH Genopedia 1 0
    GHRHR Genopedia 1 0
    ARHGEF18 Genopedia 1 0
    MMACHC Genopedia 1 0
    PTPN22 Genopedia 1 0
    GCH1 Genopedia 1 0
    GCK Genopedia 1 0
    TBL2 Genopedia 1 0
    HAVCR1 Genopedia 1 0
    HEY2 Genopedia 1 0
    CBLC Genopedia 1 0
    PCSK9 Genopedia 1 0
    MFSD8 Genopedia 1 0
    LOC100130480 Genopedia 1 0
    USH1C Genopedia 1 0
    CDH13 Genopedia 1 0
    TRIB1 Genopedia 1 0
    ACAA2 Genopedia 1 0
    CIB2 Genopedia 1 0
    SRCAP Genopedia 1 0
    TPP1 Genopedia 1 0
    USH1G Genopedia 1 0
    CRX Genopedia 1 0
    CYP2C9 Genopedia 1 0
    TTC39B Genopedia 1 0
    DBH Genopedia 1 0
    DES Genopedia 1 0
    SLC30A8 Genopedia 1 0
    PSORS1C1 Genopedia 1 0
    DYNC1I1 Genopedia 1 0
    DRD2 Genopedia 1 0
    AGT Genopedia 1 0
    AGTR1 Genopedia 1 0
    ABCA1 Genopedia 1 0
    LPAR1 Genopedia 1 0
    C9orf72 Genopedia 1 0
    AKT1 Genopedia 1 0
    ERCC4 Genopedia 1 0
    ESR1 Genopedia 1 0
    EXT1 Genopedia 1 0
    EXT2 Genopedia 1 0
    FBN1 Genopedia 1 0
    FCGRT Genopedia 1 0
    FLNA Genopedia 1 0
    LPIN1 Genopedia 1 0
    FLNC Genopedia 1 0
    LTBP4 Genopedia 1 0
    BRSK1 Genopedia 1 0
    DOCK7 Genopedia 1 0
    CAV3 Genopedia 1 0
    TP63 Genopedia 1 0
    IL18R1 Genopedia 1 0
    BTRC Genopedia 1 0
    TIMD4 Genopedia 1 0
    BCL7B Genopedia 1 0
    LIPG Genopedia 1 0
    FOXP2 Genopedia 1 0
    CD28 Genopedia 1 0
    FADS2 Genopedia 1 0
    BAG3 Genopedia 1 0
    CDH23 Genopedia 1 0
    NMNAT1 Genopedia 1 0
    RGS1 Genopedia 1 0
    RPE65 Genopedia 1 0
    RYR1 Genopedia 1 0
    CFB Genopedia 1 0
    SCN1A Genopedia 1 0
    SCN5A Genopedia 1 0
    SCN10A Genopedia 1 0
    SDHA Genopedia 1 0
    XRCC1 Genopedia 1 0
    PALB2 Genopedia 1 0
    MYH14 Genopedia 1 0
    NR4A3 Genopedia 1 0
    CEP290 Genopedia 1 0
    AMAC1L2 Genopedia 1 0
    PRSS27 Genopedia 1 0
    SLC6A3 Genopedia 1 0
    SPP1 Genopedia 1 0
    BRCA1 Genopedia 1 0
    BRCA2 Genopedia 1 0
    STAT4 Genopedia 1 0
    CDKL5 Genopedia 1 0
    TBX6 Genopedia 1 0
    TCF7L2 Genopedia 1 0
    BTK Genopedia 1 0
    TGFB2 Genopedia 1 0
    TGFBR1 Genopedia 1 0
    TGFBR2 Genopedia 1 0
    TP53 Genopedia 1 0
    C3 Genopedia 1 0
    TRAF6 Genopedia 1 0
    TRPC6 Genopedia 1 0
    TSC2 Genopedia 1 0
    TTR Genopedia 1 0
    UBE2L3 Genopedia 1 0
    EXOSC3 Genopedia 1 0
    MLXIPL Genopedia 1 0
    SERPINA1 Genopedia 1 0
    PIK3CA Genopedia 1 0
    PLTP Genopedia 1 0
    PON1 Genopedia 1 0
    SDHAF2 Genopedia 1 0
    TMEM127 Genopedia 1 0
    GSDMB Genopedia 1 0
    RPGRIP1 Genopedia 1 0
    ATP1A3 Genopedia 1 0
    NPC1 Genopedia 1 0
    HK3 Genopedia 1 0
    MUC1 Genopedia 1 0
    MUTYH Genopedia 1 0
    MVK Genopedia 1 0
    MYH6 Genopedia 1 0
    MYH7 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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