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Phenopedia


Amino Acid Metabolism, Inborn Errors

141 genes has been reported with Amino Acid Metabolism, Inborn Errors
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Associated Gene
Total Publication
Meta-analysis Publication
    MTHFR Genopedia 302 10
    PAH Genopedia 73 1
    F5 Genopedia 26 3
    CBS Genopedia 25 1
    F2 Genopedia 22 2
    MTR Genopedia 21 1
    MTRR Genopedia 20 0
    OCA2 Genopedia 15 0
    TYR Genopedia 11 0
    SLC45A2 Genopedia 10 0
    NOS3 Genopedia 9 0
    APOE Genopedia 9 0
    SLC25A13 Genopedia 9 0
    HPS1 Genopedia 7 0
    TYRP1 Genopedia 7 0
    TCN2 Genopedia 6 0
    NDUFB3 Genopedia 6 0
    TYMS Genopedia 5 0
    BHMT Genopedia 4 0
    SHMT1 Genopedia 4 0
    MMACHC Genopedia 4 0
    FOLH1 Genopedia 4 0
    ACE Genopedia 4 0
    GCDH Genopedia 3 0
    GCH1 Genopedia 3 0
    DHFR Genopedia 3 0
    MC1R Genopedia 3 0
    MUT Genopedia 3 0
    MTHFD1 Genopedia 3 0
    PTS Genopedia 3 0
    PON1 Genopedia 3 0
    HPS4 Genopedia 3 0
    HPS3 Genopedia 3 0
    GPR143 Genopedia 2 0
    OTC Genopedia 2 0
    SERPINE1 Genopedia 2 0
    PCCA Genopedia 2 0
    PCCB Genopedia 2 0
    BTD Genopedia 2 0
    TCN1 Genopedia 2 0
    QDPR Genopedia 2 0
    MS Genopedia 2 1
    OA1 Genopedia 2 0
    NNMT Genopedia 2 0
    JAK2 Genopedia 2 0
    GP1BA Genopedia 2 0
    SLC24A5 Genopedia 2 0
    MMAA Genopedia 2 0
    ACSF3 Genopedia 2 0
    Nr1h4 Genopedia 1 0
    Saa1 Genopedia 1 0
    Saa2 Genopedia 1 0
    ETFDH Genopedia 1 0
    Xbp1 Genopedia 1 0
    GCHFR Genopedia 1 0
    GCSH Genopedia 1 0
    MMADHC Genopedia 1 0
    GLDC Genopedia 1 0
    AMT Genopedia 1 0
    GNAI3 Genopedia 1 0
    Mthfr Genopedia 1 0
    DNMT3A Genopedia 1 0
    AGTR1 Genopedia 1 0
    Pon1 Genopedia 1 0
    Ppara Genopedia 1 0
    AHCY Genopedia 1 0
    HDLCQ1 Genopedia 1 0
    SLC25A15 Genopedia 1 0
    SLCO1B1 Genopedia 1 0
    MTHFD2 Genopedia 1 0
    HPS5 Genopedia 1 0
    Apoa1 Genopedia 1 0
    COMT Genopedia 1 0
    Cyp7a1 Genopedia 1 0
    CPT2 Genopedia 1 0
    SLC38A8 Genopedia 1 0
    ADRA2B Genopedia 1 0
    ADRB1 Genopedia 1 0
    GSTP1 Genopedia 1 0
    HFE Genopedia 1 0
    HP Genopedia 1 0
    FOLR1 Genopedia 1 0
    BHMT2 Genopedia 1 0
    ALOX5 Genopedia 1 0
    GALT Genopedia 1 0
    MMAB Genopedia 1 0
    APOB Genopedia 1 0
    ACADM Genopedia 1 1
    ACADSB Genopedia 1 0
    ITGB3 Genopedia 1 0
    IVD Genopedia 1 0
    ACAT1 Genopedia 1 0
    ARG2 Genopedia 1 0
    LAMP2 Genopedia 1 0
    CIMT Genopedia 1 0
    ASL Genopedia 1 0
    ASS1 Genopedia 1 0
    HIBCH Genopedia 1 0
    RAB27A Genopedia 1 0
    BCHE Genopedia 1 0
    BCKDHA Genopedia 1 0
    BCKDHB Genopedia 1 0
    RET Genopedia 1 0
    RFC1 Genopedia 1 0
    HCC Genopedia 1 0
    CFB Genopedia 1 0
    ABCD4 Genopedia 1 0
    SILV Genopedia 1 0
    SKIV2L Genopedia 1 0
    SLC17A1 Genopedia 1 0
    SLC19A1 Genopedia 1 0
    SLC22A5 Genopedia 1 0
    ABHD5 Genopedia 1 0
    PCBD1 Genopedia 1 0
    PON2 Genopedia 1 0
    PRF1 Genopedia 1 0
    ENOSF1 Genopedia 1 0
    LMBRD1 Genopedia 1 0
    PRODH Genopedia 1 0
    PNPLA2 Genopedia 1 0
    CD320 Genopedia 1 0
    SERPINA1 Genopedia 1 1
    PLAT Genopedia 1 0
    MCEE Genopedia 1 0
    IKBKAP Genopedia 1 0
    AP3B1 Genopedia 1 0
    SUCLG1 Genopedia 1 0
    SUCLA2 Genopedia 1 0
    STK19 Genopedia 1 0
    HERC2 Genopedia 1 0
    UCP2 Genopedia 1 0
    Crot Genopedia 1 0
    VEGFA Genopedia 1 0
    XBP1 Genopedia 1 0
    RDBP Genopedia 1 0
    HPS6 Genopedia 1 0
    SVEP1 Genopedia 1 0
    HMGA2 Genopedia 1 1
    SCARB1 Genopedia 1 0
    TNFAIP1 Genopedia 1 0
    C2 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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