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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
    SLC25A13 Genopedia 9 0
    APOE Genopedia 9 0
    HPS1 Genopedia 7 0
    TYRP1 Genopedia 7 0
    NDUFB3 Genopedia 6 0
    TCN2 Genopedia 6 0
    TYMS Genopedia 5 0
    BHMT Genopedia 4 0
    FOLH1 Genopedia 4 0
    SHMT1 Genopedia 4 0
    MMACHC Genopedia 4 0
    ACE Genopedia 4 0
    HPS3 Genopedia 3 0
    MUT Genopedia 3 0
    PTS Genopedia 3 0
    GCDH Genopedia 3 0
    GCH1 Genopedia 3 0
    MC1R Genopedia 3 0
    DHFR Genopedia 3 0
    HPS4 Genopedia 3 0
    PON1 Genopedia 3 0
    MTHFD1 Genopedia 3 0
    GP1BA Genopedia 2 0
    OA1 Genopedia 2 0
    GPR143 Genopedia 2 0
    SERPINE1 Genopedia 2 0
    PCCB Genopedia 2 0
    OTC Genopedia 2 0
    TCN1 Genopedia 2 0
    QDPR Genopedia 2 0
    JAK2 Genopedia 2 0
    PCCA Genopedia 2 0
    SLC24A5 Genopedia 2 0
    NNMT Genopedia 2 0
    MS Genopedia 2 1
    BTD Genopedia 2 0
    MMAA Genopedia 2 0
    ACSF3 Genopedia 2 0
    Saa2 Genopedia 1 0
    SUCLA2 Genopedia 1 0
    SCARB1 Genopedia 1 0
    SLC38A8 Genopedia 1 0
    HP Genopedia 1 0
    ACADM Genopedia 1 1
    LAMP2 Genopedia 1 0
    ABCD4 Genopedia 1 0
    BCKDHB Genopedia 1 0
    CFB Genopedia 1 0
    SKIV2L Genopedia 1 0
    Pon1 Genopedia 1 0
    SLCO1B1 Genopedia 1 0
    Apoa1 Genopedia 1 0
    GCSH Genopedia 1 0
    AMT Genopedia 1 0
    IVD Genopedia 1 0
    ACAT1 Genopedia 1 0
    MCEE Genopedia 1 0
    BCHE Genopedia 1 0
    SLC17A1 Genopedia 1 0
    RDBP Genopedia 1 0
    AP3B1 Genopedia 1 0
    PRF1 Genopedia 1 0
    PRODH Genopedia 1 0
    RET Genopedia 1 0
    GSTP1 Genopedia 1 0
    ASS1 Genopedia 1 0
    GLDC Genopedia 1 0
    MTHFD2 Genopedia 1 0
    Cyp7a1 Genopedia 1 0
    ADRB1 Genopedia 1 0
    DNMT3A Genopedia 1 0
    Saa1 Genopedia 1 0
    ETFDH Genopedia 1 0
    Xbp1 Genopedia 1 0
    CD320 Genopedia 1 0
    PNPLA2 Genopedia 1 0
    RFC1 Genopedia 1 0
    SILV Genopedia 1 0
    SLC22A5 Genopedia 1 0
    VEGFA Genopedia 1 0
    ALOX5 Genopedia 1 0
    GALT Genopedia 1 0
    GNAI3 Genopedia 1 0
    SLC25A15 Genopedia 1 0
    MMAB Genopedia 1 0
    ITGB3 Genopedia 1 0
    ARG2 Genopedia 1 0
    CIMT Genopedia 1 0
    ABHD5 Genopedia 1 0
    BCKDHA Genopedia 1 0
    HCC Genopedia 1 0
    HIBCH Genopedia 1 0
    GCHFR Genopedia 1 0
    MMADHC Genopedia 1 0
    HFE Genopedia 1 0
    COMT Genopedia 1 0
    CPT2 Genopedia 1 0
    ADRA2B Genopedia 1 0
    Ppara Genopedia 1 0
    TNFAIP1 Genopedia 1 0
    C2 Genopedia 1 0
    SUCLG1 Genopedia 1 0
    UCP2 Genopedia 1 0
    SVEP1 Genopedia 1 0
    HMGA2 Genopedia 1 1
    STK19 Genopedia 1 0
    HPS5 Genopedia 1 0
    Mthfr Genopedia 1 0
    HDLCQ1 Genopedia 1 0
    Nr1h4 Genopedia 1 0
    BHMT2 Genopedia 1 0
    ASL Genopedia 1 0
    PON2 Genopedia 1 0
    SERPINA1 Genopedia 1 1
    ENOSF1 Genopedia 1 0
    LMBRD1 Genopedia 1 0
    SLC19A1 Genopedia 1 0
    ACADSB Genopedia 1 0
    AGTR1 Genopedia 1 0
    Crot Genopedia 1 0
    XBP1 Genopedia 1 0
    IKBKAP Genopedia 1 0
    HERC2 Genopedia 1 0
    AHCY Genopedia 1 0
    FOLR1 Genopedia 1 0
    APOB Genopedia 1 0
    RAB27A Genopedia 1 0
    PCBD1 Genopedia 1 0
    PLAT Genopedia 1 0
    HPS6 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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