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Phenopedia


Lysosomal Storage Diseases

110 genes has been reported with Lysosomal Storage Diseases
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Associated Gene
Total Publication
Meta-analysis Publication
    GBA Genopedia 41 1
    GLA Genopedia 28 0
    GAA Genopedia 10 2
    HEXA Genopedia 7 0
    NPC1 Genopedia 6 1
    LIPA Genopedia 5 0
    ACE Genopedia 5 0
    MCOLN1 Genopedia 5 0
    NOS3 Genopedia 4 0
    VDR Genopedia 4 0
    GNPTAB Genopedia 4 0
    NPC2 Genopedia 4 1
    ARSA Genopedia 4 0
    IL6 Genopedia 3 0
    CHIT1 Genopedia 3 0
    LDLR Genopedia 3 0
    C7orf49 Genopedia 2 0
    TNF Genopedia 2 0
    UGCG Genopedia 2 0
    PON1 Genopedia 2 0
    SMPD1 Genopedia 2 0
    SNCA Genopedia 2 0
    CTNS Genopedia 2 0
    HLA-B Genopedia 2 0
    F2 Genopedia 2 0
    F5 Genopedia 2 0
    GALNS Genopedia 2 0
    TNFRSF11B Genopedia 2 0
    MTHFR Genopedia 2 0
    IDS Genopedia 2 0
    APOE Genopedia 2 0
    IL10 Genopedia 2 0
    IL13 Genopedia 1 0
    KIR2DL1 Genopedia 1 0
    KIR2DL2 Genopedia 1 0
    KIR2DL3 Genopedia 1 0
    KIR2DL4 Genopedia 1 0
    KIR2DS1 Genopedia 1 0
    KIR2DS3 Genopedia 1 0
    KIR2DS4 Genopedia 1 0
    KIR2DS5 Genopedia 1 0
    KIR3DL1 Genopedia 1 0
    KIR3DL2 Genopedia 1 0
    KIR3DS1 Genopedia 1 0
    IL1A Genopedia 1 0
    IL1B Genopedia 1 0
    IL4 Genopedia 1 0
    IDSP1 Genopedia 1 0
    IDUA Genopedia 1 0
    GLB1 Genopedia 1 0
    GUSB Genopedia 1 0
    NAGLU Genopedia 1 0
    HNRNPM Genopedia 1 1
    NCL Genopedia 1 0
    NAGPA Genopedia 1 0
    A4GALT Genopedia 1 0
    IL7 Genopedia 1 0
    LRP1 Genopedia 1 0
    TAG Genopedia 1 0
    MAN2A1 Genopedia 1 0
    MAPT Genopedia 1 0
    ASAH1 Genopedia 1 0
    KIR2DS2 Genopedia 1 0
    SLC17A5 Genopedia 1 0
    AFF2 Genopedia 1 0
    PCSK9 Genopedia 1 0
    GALC Genopedia 1 0
    HLA-C Genopedia 1 0
    HLA-DRB1 Genopedia 1 0
    APOB Genopedia 1 0
    HEXB Genopedia 1 0
    HFE Genopedia 1 0
    HLA-A Genopedia 1 0
    CTSD Genopedia 1 0
    CTSK Genopedia 1 1
    CYP1A1 Genopedia 1 0
    AGT Genopedia 1 0
    AGTR1 Genopedia 1 0
    ELF3 Genopedia 1 0
    CLN8 Genopedia 1 0
    ESR2 Genopedia 1 0
    KIR3DL3 Genopedia 1 0
    GRDX Genopedia 1 0
    TPP1 Genopedia 1 0
    CLN3 Genopedia 1 0
    COL2A1 Genopedia 1 0
    COL9A1 Genopedia 1 0
    CRP Genopedia 1 0
    Man2a2 Genopedia 1 0
    PAR1 Genopedia 1 0
    SPP1 Genopedia 1 0
    STX3 Genopedia 1 0
    STXBP1 Genopedia 1 0
    PPARA Genopedia 1 0
    KIR2DL5B Genopedia 1 0
    PPT1 Genopedia 1 0
    KIR2DL5A Genopedia 1 0
    GBA2 Genopedia 1 0
    GBA3 Genopedia 1 0
    RAB27A Genopedia 1 0
    RBBP6 Genopedia 1 0
    CCL3 Genopedia 1 0
    CCL4 Genopedia 1 0
    BMP4 Genopedia 1 0
    NOTCH3 Genopedia 1 0
    VWF Genopedia 1 0
    GNPTG Genopedia 1 0
    VAMP8 Genopedia 1 0
    S1PR4 Genopedia 1 0
    ACTN3 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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