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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Brain Diseases, Metabolic, Inborn
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
    CBS Genopedia 8 1
    APOE Genopedia 8 0
    NPC1 Genopedia 6 1
    ACE Genopedia 6 0
    HEXA Genopedia 6 0
    MELAS Genopedia 4 0
    ARSA Genopedia 4 0
    HFE Genopedia 4 0
    MCOLN1 Genopedia 4 0
    NOS3 Genopedia 4 0
    IL6 Genopedia 4 0
    NPC2 Genopedia 4 1
    VDR Genopedia 4 0
    GCH1 Genopedia 4 0
    GNPTAB Genopedia 4 0
    MTR Genopedia 3 0
    ATOX1 Genopedia 3 0
    F5 Genopedia 3 0
    ND5 Genopedia 3 0
    PTS Genopedia 3 0
    C7orf49 Genopedia 3 0
    ABCD1 Genopedia 3 0
    GALK1 Genopedia 3 0
    MTRR Genopedia 3 0
    PRNP Genopedia 3 0
    TNF Genopedia 3 0
    SNCA Genopedia 2 0
    IL1A Genopedia 2 0
    BDNF Genopedia 2 0
    GFAP Genopedia 2 0
    TNFRSF11B Genopedia 2 0
    HLA-B Genopedia 2 0
    HPRT1 Genopedia 2 0
    QDPR Genopedia 2 0
    COMMD1 Genopedia 2 0
    PON1 Genopedia 2 0
    DHFR Genopedia 2 0
    IL1B Genopedia 2 0
    CHIT1 Genopedia 2 0
    OTC Genopedia 2 0
    XIAP Genopedia 2 0
    F2 Genopedia 2 0
    IL10 Genopedia 2 0
    UGCG Genopedia 2 0
    SOD2 Genopedia 2 0
    UNG Genopedia 1 0
    IKBKAP Genopedia 1 0
    MVK Genopedia 1 0
    PPARA Genopedia 1 0
    RET Genopedia 1 0
    GLDC Genopedia 1 0
    HLA-C Genopedia 1 0
    KIR3DL2 Genopedia 1 0
    LRP1 Genopedia 1 0
    TAG Genopedia 1 0
    Cyp7a1 Genopedia 1 0
    PAR1 Genopedia 1 0
    DNMT3A Genopedia 1 0
    Saa1 Genopedia 1 0
    CLN8 Genopedia 1 0
    SPP1 Genopedia 1 0
    VWF Genopedia 1 0
    KIR2DL1 Genopedia 1 0
    KIR2DS5 Genopedia 1 0
    MAPT Genopedia 1 0
    ABCD2 Genopedia 1 0
    GLB1 Genopedia 1 0
    HNF4A Genopedia 1 0
    IL1RN Genopedia 1 0
    GCHFR Genopedia 1 0
    HLA-A Genopedia 1 0
    GRDX Genopedia 1 0
    CLCN5 Genopedia 1 0
    Saa2 Genopedia 1 0
    SLC11A2 Genopedia 1 0
    SLC2A9 Genopedia 1 0
    LAT2 Genopedia 1 0
    ACTN3 Genopedia 1 0
    CD1A Genopedia 1 0
    CD1C Genopedia 1 0
    SLC6A8 Genopedia 1 1
    SURF1 Genopedia 1 0
    SVEP1 Genopedia 1 0
    ABCG2 Genopedia 1 0
    INS Genopedia 1 0
    ASL Genopedia 1 0
    TMEM27 Genopedia 1 0
    GBA3 Genopedia 1 0
    ATP7A Genopedia 1 0
    A4GALT Genopedia 1 0
    DNAH8 Genopedia 1 0
    AGT Genopedia 1 0
    Pon1 Genopedia 1 0
    AMT Genopedia 1 0
    GPX1 Genopedia 1 0
    PLP1 Genopedia 1 0
    KIR2DL5B Genopedia 1 0
    SLC1A5 Genopedia 1 0
    CRP Genopedia 1 0
    ADRA2B Genopedia 1 0
    Ppara Genopedia 1 0
    FOLH1 Genopedia 1 0
    ACADM Genopedia 1 1
    IL13 Genopedia 1 0
    KIR2DL4 Genopedia 1 0
    KIR2DS1 Genopedia 1 0
    KIR2DS4 Genopedia 1 0
    NOTCH3 Genopedia 1 0
    PEX2 Genopedia 1 0
    SLC22A12 Genopedia 1 0
    CYP1A1 Genopedia 1 0
    Nr1h4 Genopedia 1 0
    KIR2DL3 Genopedia 1 0
    LDLR Genopedia 1 0
    KIR3DL3 Genopedia 1 0
    COL9A1 Genopedia 1 0
    ERG Genopedia 1 0
    HEXB Genopedia 1 0
    HLA-DRB1 Genopedia 1 0
    FOXA1 Genopedia 1 0
    APOA1 Genopedia 1 0
    GBA2 Genopedia 1 0
    RAB27A Genopedia 1 0
    CCL3 Genopedia 1 0
    BMP4 Genopedia 1 0
    ADRB1 Genopedia 1 0
    Xbp1 Genopedia 1 0
    KIR2DS3 Genopedia 1 0
    CBWD1 Genopedia 1 0
    RPL29 Genopedia 1 0
    SLC6A9 Genopedia 1 0
    Crot Genopedia 1 0
    GNPTG Genopedia 1 0
    CAT Genopedia 1 0
    VAMP8 Genopedia 1 0
    BCKDHA Genopedia 1 0
    RBBP6 Genopedia 1 0
    BCKDHB Genopedia 1 0
    CD1E Genopedia 1 0
    MTSS1 Genopedia 1 0
    CLU Genopedia 1 0
    TC2N Genopedia 1 0
    COL2A1 Genopedia 1 0
    DRD2 Genopedia 1 0
    GALC Genopedia 1 0
    FOXA2 Genopedia 1 0
    TRNV Genopedia 1 0
    INO80 Genopedia 1 0
    ABCD4 Genopedia 1 0
    trnK Genopedia 1 0
    STXBP1 Genopedia 1 0
    HMGA2 Genopedia 1 1
    TRNK Genopedia 1 0
    MMACHC Genopedia 1 0
    GCSH Genopedia 1 0
    IL7 Genopedia 1 0
    KIR2DL2 Genopedia 1 0
    MBD6 Genopedia 1 0
    Apoa1 Genopedia 1 0
    Mthfr Genopedia 1 0
    ESR2 Genopedia 1 0
    APOB Genopedia 1 0
    IL4 Genopedia 1 0
    KIR3DL1 Genopedia 1 0
    KIR3DS1 Genopedia 1 0
    ND4 Genopedia 1 0
    PCBD1 Genopedia 1 0
    NAGPA Genopedia 1 0
    KIR2DL5A Genopedia 1 0
    AICDA Genopedia 1 0
    ABCD3 Genopedia 1 0
    RXRA Genopedia 1 0
    CCL4 Genopedia 1 0
    PUS1 Genopedia 1 0
    PNPLA3 Genopedia 1 0
    KIR2DS2 Genopedia 1 0
    SLC25A15 Genopedia 1 0
    CP Genopedia 1 0
    ELF3 Genopedia 1 0
    SLC1A4 Genopedia 1 0
    ASS1 Genopedia 1 0
    SERPINA1 Genopedia 1 1
    MTHFD2 Genopedia 1 0
    AGTR1 Genopedia 1 0
    GSTP1 Genopedia 1 0
    STX3 Genopedia 1 0
    S1PR4 Genopedia 1 0
    MBD4 Genopedia 1 0
    CD1B Genopedia 1 0
    CD1D Genopedia 1 0
    SLC6A5 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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