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Phenopedia


Lysosomal Storage Diseases

99 genes has been reported with Lysosomal Storage Diseases
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Associated Gene
Total Publication
Meta-analysis Publication
    GBA Genopedia 36 1
    GLA Genopedia 25 0
    GAA Genopedia 9 2
    HEXA Genopedia 6 0
    NPC1 Genopedia 6 1
    MCOLN1 Genopedia 5 0
    NPC2 Genopedia 4 1
    ACE Genopedia 4 0
    GNPTAB Genopedia 4 0
    ARSA Genopedia 4 0
    VDR Genopedia 4 0
    LIPA Genopedia 3 0
    CHIT1 Genopedia 3 0
    IL6 Genopedia 3 0
    NOS3 Genopedia 3 0
    SMPD1 Genopedia 2 0
    UGCG Genopedia 2 0
    IDS Genopedia 2 0
    F5 Genopedia 2 0
    PON1 Genopedia 2 0
    TNF Genopedia 2 0
    F2 Genopedia 2 0
    MTHFR Genopedia 2 0
    APOE Genopedia 2 0
    C7orf49 Genopedia 2 0
    GALNS Genopedia 2 0
    TNFRSF11B Genopedia 2 0
    HLA-B Genopedia 2 0
    IL10 Genopedia 2 0
    SNCA Genopedia 2 0
    GNPTG Genopedia 1 0
    CLN3 Genopedia 1 0
    PAR1 Genopedia 1 0
    HLA-C Genopedia 1 0
    KIR2DS3 Genopedia 1 0
    KIR3DL2 Genopedia 1 0
    ASAH1 Genopedia 1 0
    IDSP1 Genopedia 1 0
    IDUA Genopedia 1 0
    IL4 Genopedia 1 0
    KIR2DS2 Genopedia 1 0
    COL9A1 Genopedia 1 0
    ELF3 Genopedia 1 0
    CLN8 Genopedia 1 0
    NAGPA Genopedia 1 0
    GBA2 Genopedia 1 0
    BMP4 Genopedia 1 0
    SPP1 Genopedia 1 0
    GLB1 Genopedia 1 0
    HEXB Genopedia 1 0
    IL7 Genopedia 1 0
    CTSD Genopedia 1 0
    AGT Genopedia 1 0
    NCL Genopedia 1 0
    GBA3 Genopedia 1 0
    HLA-A Genopedia 1 0
    NOTCH3 Genopedia 1 0
    GRDX Genopedia 1 0
    TPP1 Genopedia 1 0
    CRP Genopedia 1 0
    CTNS Genopedia 1 0
    ACTN3 Genopedia 1 0
    AGTR1 Genopedia 1 0
    IL1A Genopedia 1 0
    LRP1 Genopedia 1 0
    TAG Genopedia 1 0
    PPARA Genopedia 1 0
    PPT1 Genopedia 1 0
    KIR2DL5A Genopedia 1 0
    CCL3 Genopedia 1 0
    CCL4 Genopedia 1 0
    SLC17A5 Genopedia 1 0
    KIR3DL3 Genopedia 1 0
    CTSK Genopedia 1 1
    IL1B Genopedia 1 0
    KIR2DL1 Genopedia 1 0
    KIR2DL3 Genopedia 1 0
    KIR2DS5 Genopedia 1 0
    KIR3DL1 Genopedia 1 0
    KIR3DS1 Genopedia 1 0
    LDLR Genopedia 1 0
    MAPT Genopedia 1 0
    NAGLU Genopedia 1 0
    GUSB Genopedia 1 0
    HLA-DRB1 Genopedia 1 0
    IL13 Genopedia 1 0
    KIR2DL4 Genopedia 1 0
    KIR2DS1 Genopedia 1 0
    KIR2DS4 Genopedia 1 0
    HNRNPM Genopedia 1 1
    KIR2DL5B Genopedia 1 0
    COL2A1 Genopedia 1 0
    GALC Genopedia 1 0
    HFE Genopedia 1 0
    A4GALT Genopedia 1 0
    KIR2DL2 Genopedia 1 0
    CYP1A1 Genopedia 1 0
    ESR2 Genopedia 1 0
    AFF2 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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