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Phenopedia


Brain Diseases, Metabolic, Inborn

We have to retire this site due to some reasons. This site has not longer been updated and some links are not working properly.
200 genes has been reported with Brain Diseases, Metabolic, Inborn
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Associated Gene
Total Publication
Meta-analysis Publication
    PAH Genopedia 77 1
    ATP7B Genopedia 60 1
    GBA Genopedia 39 1
    GLA Genopedia 28 0
    GALT Genopedia 19 0
    MTHFR Genopedia 13 0
    TRNL1 Genopedia 11 0
    GAA Genopedia 10 2
    SLC25A13 Genopedia 9 0
    APOE Genopedia 8 0
    CBS Genopedia 8 1
    NPC1 Genopedia 6 1
    ACE Genopedia 6 0
    HEXA Genopedia 6 0
    HFE Genopedia 4 0
    GCH1 Genopedia 4 0
    NPC2 Genopedia 4 1
    NOS3 Genopedia 4 0
    MCOLN1 Genopedia 4 0
    IL6 Genopedia 4 0
    ARSA Genopedia 4 0
    MELAS Genopedia 4 0
    GNPTAB Genopedia 4 0
    VDR Genopedia 4 0
    PRNP Genopedia 3 0
    ATOX1 Genopedia 3 0
    C7orf49 Genopedia 3 0
    TNF Genopedia 3 0
    ND5 Genopedia 3 0
    MTR Genopedia 3 0
    MTRR Genopedia 3 0
    PTS Genopedia 3 0
    GALK1 Genopedia 3 0
    ABCD1 Genopedia 3 0
    F5 Genopedia 3 0
    F2 Genopedia 2 0
    GFAP Genopedia 2 0
    HLA-B Genopedia 2 0
    HPRT1 Genopedia 2 0
    XIAP Genopedia 2 0
    COMMD1 Genopedia 2 0
    CHIT1 Genopedia 2 0
    DHFR Genopedia 2 0
    QDPR Genopedia 2 0
    TNFRSF11B Genopedia 2 0
    OTC Genopedia 2 0
    PON1 Genopedia 2 0
    IL1A Genopedia 2 0
    IL1B Genopedia 2 0
    IL10 Genopedia 2 0
    UGCG Genopedia 2 0
    SNCA Genopedia 2 0
    SOD2 Genopedia 2 0
    BDNF Genopedia 2 0
    CCL3 Genopedia 1 0
    CCL4 Genopedia 1 0
    SLC1A4 Genopedia 1 0
    SLC1A5 Genopedia 1 0
    BMP4 Genopedia 1 0
    SLC6A8 Genopedia 1 1
    SLC6A9 Genopedia 1 0
    SPP1 Genopedia 1 0
    trnK Genopedia 1 0
    STX3 Genopedia 1 0
    STXBP1 Genopedia 1 0
    SURF1 Genopedia 1 0
    UNG Genopedia 1 0
    Crot Genopedia 1 0
    SVEP1 Genopedia 1 0
    PUS1 Genopedia 1 0
    PNPLA3 Genopedia 1 0
    HMGA2 Genopedia 1 1
    GNPTG Genopedia 1 0
    CAT Genopedia 1 0
    IKBKAP Genopedia 1 0
    VAMP8 Genopedia 1 0
    S1PR4 Genopedia 1 0
    ACTN3 Genopedia 1 0
    MBD4 Genopedia 1 0
    CD1A Genopedia 1 0
    CD1B Genopedia 1 0
    CD1C Genopedia 1 0
    CD1D Genopedia 1 0
    CD1E Genopedia 1 0
    SLC6A5 Genopedia 1 0
    ABCG2 Genopedia 1 0
    MTSS1 Genopedia 1 0
    SLC2A9 Genopedia 1 0
    VWF Genopedia 1 0
    LAT2 Genopedia 1 0
    IL13 Genopedia 1 0
    INS 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
    LDLR Genopedia 1 0
    LRP1 Genopedia 1 0
    TAG Genopedia 1 0
    IL1RN Genopedia 1 0
    IL4 Genopedia 1 0
    MAPT Genopedia 1 0
    IL7 Genopedia 1 0
    TRNK Genopedia 1 0
    ASL Genopedia 1 0
    ASS1 Genopedia 1 0
    ND4 Genopedia 1 0
    INO80 Genopedia 1 0
    PPARA Genopedia 1 0
    KIR2DL5B Genopedia 1 0
    CBWD1 Genopedia 1 0
    PCBD1 Genopedia 1 0
    NAGPA Genopedia 1 0
    SERPINA1 Genopedia 1 1
    PLP1 Genopedia 1 0
    ATP7A Genopedia 1 0
    A4GALT Genopedia 1 0
    SLC11A2 Genopedia 1 0
    NOTCH3 Genopedia 1 0
    TRNV Genopedia 1 0
    MVK Genopedia 1 0
    RAB27A Genopedia 1 0
    BCKDHA Genopedia 1 0
    RBBP6 Genopedia 1 0
    BCKDHB Genopedia 1 0
    RET Genopedia 1 0
    RPL29 Genopedia 1 0
    RXRA Genopedia 1 0
    ABCD3 Genopedia 1 0
    ABCD4 Genopedia 1 0
    PEX2 Genopedia 1 0
    KIR2DL5A Genopedia 1 0
    AICDA Genopedia 1 0
    TMEM27 Genopedia 1 0
    GBA2 Genopedia 1 0
    GBA3 Genopedia 1 0
    DNAH8 Genopedia 1 0
    Mthfr Genopedia 1 0
    DNMT3A Genopedia 1 0
    DRD2 Genopedia 1 0
    AGT Genopedia 1 0
    AGTR1 Genopedia 1 0
    Pon1 Genopedia 1 0
    Ppara Genopedia 1 0
    ELF3 Genopedia 1 0
    Nr1h4 Genopedia 1 0
    Saa1 Genopedia 1 0
    Saa2 Genopedia 1 0
    CLN8 Genopedia 1 0
    ERG Genopedia 1 0
    ESR2 Genopedia 1 0
    MBD6 Genopedia 1 0
    KIR3DL3 Genopedia 1 0
    SLC22A12 Genopedia 1 0
    GRDX Genopedia 1 0
    Apoa1 Genopedia 1 0
    CLCN5 Genopedia 1 0
    CLU Genopedia 1 0
    TC2N Genopedia 1 0
    COL2A1 Genopedia 1 0
    COL9A1 Genopedia 1 0
    Cyp7a1 Genopedia 1 0
    CP Genopedia 1 0
    CRP Genopedia 1 0
    PAR1 Genopedia 1 0
    ADRA2B Genopedia 1 0
    ADRB1 Genopedia 1 0
    CYP1A1 Genopedia 1 0
    MTHFD2 Genopedia 1 0
    SLC25A15 Genopedia 1 0
    APOA1 Genopedia 1 0
    APOB Genopedia 1 0
    ACADM Genopedia 1 1
    HLA-C Genopedia 1 0
    HLA-DRB1 Genopedia 1 0
    FOXA1 Genopedia 1 0
    FOXA2 Genopedia 1 0
    HNF4A Genopedia 1 0
    HLA-A Genopedia 1 0
    HEXB Genopedia 1 0
    GLB1 Genopedia 1 0
    GLDC Genopedia 1 0
    AMT Genopedia 1 0
    GPX1 Genopedia 1 0
    GSTP1 Genopedia 1 0
    MMACHC Genopedia 1 0
    GCHFR Genopedia 1 0
    GCSH Genopedia 1 0
    KIR2DS2 Genopedia 1 0
    GALC Genopedia 1 0
    Xbp1 Genopedia 1 0
    ABCD2 Genopedia 1 0
    FOLH1 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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