Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content
HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Rare Diseases

170 genes has been reported with Rare Diseases
[Click Sort to re-sort the table]
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
    BRCA1 Genopedia 3 0
    PCDH15 Genopedia 2 0
    USH2A Genopedia 2 0
    CLRN1 Genopedia 2 0
    HLA-DRB1 Genopedia 2 0
    PAH Genopedia 2 0
    SDHC Genopedia 2 0
    HLA-B Genopedia 2 0
    MYO7A Genopedia 2 0
    BRCA2 Genopedia 2 0
    GPR98 Genopedia 2 0
    GHR Genopedia 2 0
    GJB2 Genopedia 2 0
    FMR1 Genopedia 2 0
    DFNB31 Genopedia 2 0
    APOB Genopedia 2 0
    ACADM Genopedia 2 0
    ACE Genopedia 2 1
    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
    FCGRT Genopedia 1 0
    FLNA Genopedia 1 0
    LPIN1 Genopedia 1 0
    FLNC 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
    SLCO1B1 Genopedia 1 0
    SRCAP Genopedia 1 0
    FBXO32 Genopedia 1 0
    CLCN1 Genopedia 1 0
    TPP1 Genopedia 1 0
    USH1G Genopedia 1 0
    CYP2C9 Genopedia 1 0
    CYP3A5 Genopedia 1 0
    TTC39B Genopedia 1 0
    DBH Genopedia 1 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
    MAX Genopedia 1 0
    MC1R Genopedia 1 0
    CD46 Genopedia 1 0
    MECP2 Genopedia 1 0
    MEFV Genopedia 1 0
    MLH1 Genopedia 1 0
    MSH2 Genopedia 1 0
    PTPN22 Genopedia 1 0
    GCH1 Genopedia 1 0
    GCK Genopedia 1 0
    TBL2 Genopedia 1 0
    HAVCR1 Genopedia 1 0
    ARHGEF18 Genopedia 1 0
    CRB1 Genopedia 1 0
    HEY2 Genopedia 1 0
    PCSK9 Genopedia 1 0
    MFSD8 Genopedia 1 0
    ANGPTL3 Genopedia 1 0
    GNAS Genopedia 1 0
    RBM20 Genopedia 1 0
    XKR6 Genopedia 1 0
    GRN Genopedia 1 0
    GHRH Genopedia 1 0
    GHRHR Genopedia 1 0
    HK3 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
    RECQL5 Genopedia 1 0
    FADS2 Genopedia 1 0
    MYOT Genopedia 1 0
    BAG3 Genopedia 1 0
    STAT4 Genopedia 1 0
    CDKL5 Genopedia 1 0
    TBX6 Genopedia 1 0
    TCF7L2 Genopedia 1 0
    BTK Genopedia 1 0
    TP53 Genopedia 1 0
    C3 Genopedia 1 0
    TRAF6 Genopedia 1 0
    TRPC6 Genopedia 1 0
    TSC2 Genopedia 1 0
    TTN Genopedia 1 0
    TTR Genopedia 1 0
    UBE2L3 Genopedia 1 0
    UNG Genopedia 1 0
    XRCC1 Genopedia 1 0
    CARD14 Genopedia 1 0
    SH3TC2 Genopedia 1 0
    PALB2 Genopedia 1 0
    MYH14 Genopedia 1 0
    NR4A3 Genopedia 1 0
    AMAC1L2 Genopedia 1 0
    PRSS27 Genopedia 1 0
    ATP1A3 Genopedia 1 0
    NPC1 Genopedia 1 0
    HLA-DQB1 Genopedia 1 0
    CDH23 Genopedia 1 0
    RGS1 Genopedia 1 0
    RYR1 Genopedia 1 0
    BDNF Genopedia 1 0
    CFB Genopedia 1 0
    SCN1A Genopedia 1 0
    SCN5A Genopedia 1 0
    SCN10A Genopedia 1 0
    SDHA Genopedia 1 0
    EXOSC3 Genopedia 1 0
    MLXIPL Genopedia 1 0
    SERPINA1 Genopedia 1 0
    PIK3CD Genopedia 1 0
    PLTP Genopedia 1 0
    POMC Genopedia 1 0
    PON1 Genopedia 1 0
    SDHAF2 Genopedia 1 0
    TMEM127 Genopedia 1 0
    GSDMB Genopedia 1 0
    HMGCR Genopedia 1 0
    APC Genopedia 1 0
    HPRT1 Genopedia 1 0
    MMAB Genopedia 1 0
    MUC1 Genopedia 1 0
    MUTYH Genopedia 1 0
    MVK Genopedia 1 0
    MYH6 Genopedia 1 0
    MYH7 Genopedia 1 0
    SLC6A3 Genopedia 1 0
    SPP1 Genopedia 1 0
    BRAF 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.
TOP