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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Rare Diseases

170 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
    MTHFR Genopedia 3 0
    BRCA1 Genopedia 3 0
    SDHB Genopedia 3 0
    SDHD Genopedia 3 0
    PCDH15 Genopedia 2 0
    APOB Genopedia 2 0
    BRCA2 Genopedia 2 0
    DFNB31 Genopedia 2 0
    HLA-DRB1 Genopedia 2 0
    CLRN1 Genopedia 2 0
    PAH Genopedia 2 0
    GJB2 Genopedia 2 0
    ACE Genopedia 2 1
    ACADM Genopedia 2 0
    USH2A Genopedia 2 0
    SDHC Genopedia 2 0
    GPR98 Genopedia 2 0
    GHR Genopedia 2 0
    HLA-B Genopedia 2 0
    MYO7A Genopedia 2 0
    FMR1 Genopedia 2 0
    MFSD8 Genopedia 1 0
    EXT1 Genopedia 1 0
    GSDMB Genopedia 1 0
    SPP1 Genopedia 1 0
    BTK Genopedia 1 0
    BRSK1 Genopedia 1 0
    BAG3 Genopedia 1 0
    MMAB Genopedia 1 0
    FADS1 Genopedia 1 0
    LRP5 Genopedia 1 0
    MC1R Genopedia 1 0
    MYH7 Genopedia 1 0
    DOCK7 Genopedia 1 0
    IL18R1 Genopedia 1 0
    RYR1 Genopedia 1 0
    BDNF Genopedia 1 0
    SLC6A3 Genopedia 1 0
    CDKL5 Genopedia 1 0
    UNG Genopedia 1 0
    XRCC1 Genopedia 1 0
    AMAC1L2 Genopedia 1 0
    PRSS27 Genopedia 1 0
    HMGCR Genopedia 1 0
    FADS3 Genopedia 1 0
    MSH2 Genopedia 1 0
    MUTYH Genopedia 1 0
    MVK Genopedia 1 0
    MLXIPL Genopedia 1 0
    POMC Genopedia 1 0
    CIB2 Genopedia 1 0
    TTC39B Genopedia 1 0
    C9orf72 Genopedia 1 0
    AKT1 Genopedia 1 0
    ESR1 Genopedia 1 0
    FLNC Genopedia 1 0
    CRB1 Genopedia 1 0
    PCSK9 Genopedia 1 0
    GCH1 Genopedia 1 0
    GHRH Genopedia 1 0
    RBM20 Genopedia 1 0
    XKR6 Genopedia 1 0
    BRAF Genopedia 1 0
    TSC2 Genopedia 1 0
    SH3TC2 Genopedia 1 0
    LTBP4 Genopedia 1 0
    TP63 Genopedia 1 0
    AR Genopedia 1 0
    MLH1 Genopedia 1 0
    NPC1 Genopedia 1 0
    PLTP Genopedia 1 0
    CFB Genopedia 1 0
    SLC30A8 Genopedia 1 0
    PTPN22 Genopedia 1 0
    GHRHR Genopedia 1 0
    APC Genopedia 1 0
    ACAA2 Genopedia 1 0
    SRCAP Genopedia 1 0
    TPP1 Genopedia 1 0
    USH1G Genopedia 1 0
    HLA-DQB1 Genopedia 1 0
    APOE Genopedia 1 0
    KCNQ2 Genopedia 1 0
    LCAT Genopedia 1 0
    CD46 Genopedia 1 0
    MECP2 Genopedia 1 0
    SLCO1B1 Genopedia 1 0
    CYP3A5 Genopedia 1 0
    DES Genopedia 1 0
    AGT Genopedia 1 0
    LPAR1 Genopedia 1 0
    EXT2 Genopedia 1 0
    SDHA Genopedia 1 0
    TP53 Genopedia 1 0
    TRAF6 Genopedia 1 0
    TRPC6 Genopedia 1 0
    NR4A3 Genopedia 1 0
    BTRC Genopedia 1 0
    BCL7B Genopedia 1 0
    PIK3CD Genopedia 1 0
    CDH23 Genopedia 1 0
    STAT4 Genopedia 1 0
    TTN Genopedia 1 0
    TTR Genopedia 1 0
    LIPG Genopedia 1 0
    RECQL5 Genopedia 1 0
    MYOT Genopedia 1 0
    CDH13 Genopedia 1 0
    CLCN1 Genopedia 1 0
    CYP2C9 Genopedia 1 0
    DBH Genopedia 1 0
    PSORS1C1 Genopedia 1 0
    DRD2 Genopedia 1 0
    ERCC4 Genopedia 1 0
    ARHGEF18 Genopedia 1 0
    HAVCR1 Genopedia 1 0
    GNAS Genopedia 1 0
    HK3 Genopedia 1 0
    APOC1 Genopedia 1 0
    CFI Genopedia 1 0
    APOC4 Genopedia 1 0
    MEFV Genopedia 1 0
    MUC1 Genopedia 1 0
    ATP1A3 Genopedia 1 0
    FOXP2 Genopedia 1 0
    USH1C Genopedia 1 0
    FBXO32 Genopedia 1 0
    ABCA1 Genopedia 1 0
    FLNA Genopedia 1 0
    HEY2 Genopedia 1 0
    LHX1 Genopedia 1 0
    SCN1A Genopedia 1 0
    SCN10A Genopedia 1 0
    UBE2L3 Genopedia 1 0
    HPRT1 Genopedia 1 0
    LOC100130480 Genopedia 1 0
    DYNC1I1 Genopedia 1 0
    GCK Genopedia 1 0
    TBL2 Genopedia 1 0
    ANGPTL3 Genopedia 1 0
    CAV3 Genopedia 1 0
    CD28 Genopedia 1 0
    LDLR Genopedia 1 0
    PON1 Genopedia 1 0
    TRIB1 Genopedia 1 0
    AGTR1 Genopedia 1 0
    FCGRT Genopedia 1 0
    LPIN1 Genopedia 1 0
    GRN Genopedia 1 0
    APOC2 Genopedia 1 0
    IL12A Genopedia 1 1
    MAX Genopedia 1 0
    MYH6 Genopedia 1 0
    EXOSC3 Genopedia 1 0
    SERPINA1 Genopedia 1 0
    SDHAF2 Genopedia 1 0
    TMEM127 Genopedia 1 0
    RGS1 Genopedia 1 0
    SCN5A Genopedia 1 0
    TBX6 Genopedia 1 0
    TCF7L2 Genopedia 1 0
    C3 Genopedia 1 0
    CARD14 Genopedia 1 0
    PALB2 Genopedia 1 0
    MYH14 Genopedia 1 0
    TIMD4 Genopedia 1 0
    FADS2 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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