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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Rare Diseases
187 genes has been reported with Rare Diseases
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Associated Gene
Total Publication
Meta-analysis Publication
    VHL Genopedia 5 0
    CFH Genopedia 5 0
    RET Genopedia 4 0
    MTHFR Genopedia 3 0
    SDHD Genopedia 3 0
    HLA-DRB1 Genopedia 3 0
    SDHB Genopedia 3 0
    GPR98 Genopedia 2 0
    ACE Genopedia 2 1
    ACADM Genopedia 2 0
    SDHC Genopedia 2 0
    TSC2 Genopedia 2 0
    HLA-B Genopedia 2 0
    MYO7A Genopedia 2 0
    PAH Genopedia 2 0
    USH2A Genopedia 2 0
    GJB2 Genopedia 2 0
    CLRN1 Genopedia 2 0
    CRB1 Genopedia 2 0
    FMR1 Genopedia 2 0
    DFNB31 Genopedia 2 0
    GHR Genopedia 2 0
    PCDH15 Genopedia 2 0
    SPP1 Genopedia 1 0
    BRSK1 Genopedia 1 0
    CAV3 Genopedia 1 0
    MC1R Genopedia 1 0
    MYH7 Genopedia 1 0
    PIK3CA Genopedia 1 0
    GSDMB Genopedia 1 0
    TBL2 Genopedia 1 0
    LOC100130480 Genopedia 1 0
    DMD Genopedia 1 0
    CBLC Genopedia 1 0
    GCH1 Genopedia 1 0
    HMGCR Genopedia 1 0
    MAX Genopedia 1 0
    MVK Genopedia 1 0
    SDHAF2 Genopedia 1 0
    TMEM127 Genopedia 1 0
    CDKL5 Genopedia 1 0
    TSC1 Genopedia 1 0
    MYH14 Genopedia 1 0
    AMAC1L2 Genopedia 1 0
    PRSS27 Genopedia 1 0
    TIMD4 Genopedia 1 0
    FADS2 Genopedia 1 0
    CIB2 Genopedia 1 0
    AKT1 Genopedia 1 0
    ESR1 Genopedia 1 0
    FCGRT Genopedia 1 0
    NR4A3 Genopedia 1 0
    FOXP2 Genopedia 1 0
    APOE Genopedia 1 0
    LCAT Genopedia 1 0
    ASL Genopedia 1 0
    TGFB2 Genopedia 1 0
    TP53 Genopedia 1 0
    CTLA4 Genopedia 1 0
    AGT Genopedia 1 0
    LPAR1 Genopedia 1 0
    ACAA2 Genopedia 1 0
    TPP1 Genopedia 1 0
    CYP2C9 Genopedia 1 0
    DBH Genopedia 1 0
    TCTEX1D1 Genopedia 1 0
    ERCC4 Genopedia 1 0
    PTPN22 Genopedia 1 0
    GH1 Genopedia 1 0
    GHRHR Genopedia 1 0
    HK3 Genopedia 1 0
    APC Genopedia 1 0
    CFB Genopedia 1 0
    NMNAT1 Genopedia 1 0
    STAT4 Genopedia 1 0
    TTR Genopedia 1 0
    CXCR4 Genopedia 1 0
    FKRP Genopedia 1 0
    TP63 Genopedia 1 0
    LTBP4 Genopedia 1 0
    SRCAP Genopedia 1 0
    DRD2 Genopedia 1 0
    HAVCR1 Genopedia 1 0
    GNAS Genopedia 1 0
    CFI Genopedia 1 0
    AR Genopedia 1 0
    NPC1 Genopedia 1 0
    USH1C Genopedia 1 0
    CFTR Genopedia 1 0
    EXT2 Genopedia 1 0
    FLNA Genopedia 1 0
    HEY2 Genopedia 1 0
    MMACHC Genopedia 1 0
    HLA-DQB1 Genopedia 1 0
    KCNQ2 Genopedia 1 0
    LHX1 Genopedia 1 0
    CD46 Genopedia 1 0
    RPE65 Genopedia 1 0
    SCN10A Genopedia 1 0
    TRAF6 Genopedia 1 0
    UBE2L3 Genopedia 1 0
    BTRC Genopedia 1 0
    FBN1 Genopedia 1 0
    GDF2 Genopedia 1 0
    NR3C1 Genopedia 1 0
    PDGFD Genopedia 1 0
    CARD11 Genopedia 1 0
    CD28 Genopedia 1 0
    BAG3 Genopedia 1 0
    HPRT1 Genopedia 1 0
    APOB Genopedia 1 0
    FADS1 Genopedia 1 0
    SOX17 Genopedia 1 0
    BRCA1 Genopedia 1 0
    BTK Genopedia 1 0
    TGFBR1 Genopedia 1 0
    APOC2 Genopedia 1 0
    IL12A Genopedia 1 1
    KDR Genopedia 1 0
    ASS1 Genopedia 1 0
    MUTYH Genopedia 1 0
    MLXIPL Genopedia 1 0
    SERPINA1 Genopedia 1 0
    RPGRIP1 Genopedia 1 0
    RYR1 Genopedia 1 0
    SLC6A3 Genopedia 1 0
    BMPR2 Genopedia 1 0
    TBX6 Genopedia 1 0
    PALB2 Genopedia 1 0
    IL18R1 Genopedia 1 0
    TBX4 Genopedia 1 0
    AGTR1 Genopedia 1 0
    C9orf72 Genopedia 1 0
    FBLN2 Genopedia 1 0
    PCSK9 Genopedia 1 0
    XKR6 Genopedia 1 0
    LIPG Genopedia 1 0
    CDH23 Genopedia 1 0
    CDH13 Genopedia 1 0
    USH1G Genopedia 1 0
    APOC1 Genopedia 1 0
    APOC4 Genopedia 1 0
    MUC1 Genopedia 1 0
    ATP1A3 Genopedia 1 0
    PLTP Genopedia 1 0
    SLC30A8 Genopedia 1 0
    PSORS1C1 Genopedia 1 0
    ARHGEF18 Genopedia 1 0
    HLA-DQA1 Genopedia 1 0
    DES Genopedia 1 0
    ABCA1 Genopedia 1 0
    SMAD3 Genopedia 1 0
    SCN1A Genopedia 1 0
    SDHA Genopedia 1 0
    TGFBR2 Genopedia 1 0
    TRPC6 Genopedia 1 0
    CEP290 Genopedia 1 0
    BCL7B Genopedia 1 0
    DOCK7 Genopedia 1 0
    TRIB1 Genopedia 1 0
    TTC39B Genopedia 1 0
    LPIN1 Genopedia 1 0
    FLNC Genopedia 1 0
    GATA2 Genopedia 1 0
    GHRH Genopedia 1 0
    GRN Genopedia 1 0
    GUCY2D Genopedia 1 0
    FADS3 Genopedia 1 0
    MYH6 Genopedia 1 0
    EXOSC3 Genopedia 1 0
    RGS1 Genopedia 1 0
    SCN5A Genopedia 1 0
    TCF7L2 Genopedia 1 0
    C3 Genopedia 1 0
    XRCC1 Genopedia 1 0
    BRCA2 Genopedia 1 0
    MMAB Genopedia 1 0
    LDLR Genopedia 1 0
    LRP5 Genopedia 1 0
    PON1 Genopedia 1 0
    CRX Genopedia 1 0
    DYNC1I1 Genopedia 1 0
    EXT1 Genopedia 1 0
    MFSD8 Genopedia 1 0
    GCK Genopedia 1 0
    ANGPTL3 Genopedia 1 0
    ICOS 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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