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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 305 10
    PAH Genopedia 77 1
    F5 Genopedia 26 3
    CBS Genopedia 25 1
    F2 Genopedia 22 2
    MTR Genopedia 21 1
    MTRR Genopedia 21 0
    OCA2 Genopedia 15 0
    TYR Genopedia 11 0
    SLC45A2 Genopedia 10 0
    SLC25A13 Genopedia 9 0
    NOS3 Genopedia 9 0
    APOE Genopedia 9 0
    TYRP1 Genopedia 7 0
    HPS1 Genopedia 7 0
    TCN2 Genopedia 6 0
    NDUFB3 Genopedia 6 0
    TYMS Genopedia 5 0
    SHMT1 Genopedia 4 0
    ACE Genopedia 4 0
    FOLH1 Genopedia 4 0
    MMACHC Genopedia 4 0
    GCH1 Genopedia 4 0
    BHMT Genopedia 4 0
    MC1R Genopedia 3 0
    PTS Genopedia 3 0
    HPS4 Genopedia 3 0
    HPS3 Genopedia 3 0
    MTHFD1 Genopedia 3 0
    SERPINE1 Genopedia 3 0
    MUT Genopedia 3 0
    GCDH Genopedia 3 0
    PON1 Genopedia 3 0
    DHFR Genopedia 3 0
    GP1BA Genopedia 2 0
    MS Genopedia 2 1
    PCCB Genopedia 2 0
    OTC Genopedia 2 0
    TCN1 Genopedia 2 0
    OA1 Genopedia 2 0
    SLC24A5 Genopedia 2 0
    JAK2 Genopedia 2 0
    QDPR Genopedia 2 0
    MMAA Genopedia 2 0
    BTD Genopedia 2 0
    ACSF3 Genopedia 2 0
    PCCA Genopedia 2 0
    NNMT Genopedia 2 0
    GPR143 Genopedia 2 0
    PRF1 Genopedia 1 0
    ENOSF1 Genopedia 1 0
    PRODH Genopedia 1 0
    RET Genopedia 1 0
    SLC19A1 Genopedia 1 0
    IKBKAP Genopedia 1 0
    AP3B1 Genopedia 1 0
    GLDC Genopedia 1 0
    Cyp7a1 Genopedia 1 0
    DNMT3A Genopedia 1 0
    Saa1 Genopedia 1 0
    PLAT Genopedia 1 0
    PNPLA2 Genopedia 1 0
    FOLR1 Genopedia 1 0
    GNAI3 Genopedia 1 0
    ITGB3 Genopedia 1 0
    SILV Genopedia 1 0
    SLC22A5 Genopedia 1 0
    HPS6 Genopedia 1 0
    Saa2 Genopedia 1 0
    SCARB1 Genopedia 1 0
    CPT2 Genopedia 1 0
    HIBCH Genopedia 1 0
    GCHFR Genopedia 1 0
    CIMT Genopedia 1 0
    ABHD5 Genopedia 1 0
    CFB Genopedia 1 0
    SKIV2L Genopedia 1 0
    TNFAIP1 Genopedia 1 0
    C2 Genopedia 1 0
    SUCLA2 Genopedia 1 0
    UCP2 Genopedia 1 0
    SVEP1 Genopedia 1 0
    MCEE Genopedia 1 0
    ASL Genopedia 1 0
    PON2 Genopedia 1 0
    HPS5 Genopedia 1 0
    Pon1 Genopedia 1 0
    HDLCQ1 Genopedia 1 0
    BHMT2 Genopedia 1 0
    AMT Genopedia 1 0
    HMGA2 Genopedia 1 1
    STK19 Genopedia 1 0
    Mthfr Genopedia 1 0
    SLCO1B1 Genopedia 1 0
    Apoa1 Genopedia 1 0
    GCSH Genopedia 1 0
    IVD Genopedia 1 0
    BCHE Genopedia 1 0
    BCKDHA Genopedia 1 0
    BCKDHB Genopedia 1 0
    HCC Genopedia 1 0
    ABCD4 Genopedia 1 0
    SLC38A8 Genopedia 1 0
    MMADHC Genopedia 1 0
    HP Genopedia 1 0
    GSTP1 Genopedia 1 0
    ACADSB Genopedia 1 0
    ASS1 Genopedia 1 0
    MTHFD2 Genopedia 1 0
    AGTR1 Genopedia 1 0
    ETFDH Genopedia 1 0
    SERPINA1 Genopedia 1 1
    XBP1 Genopedia 1 0
    HERC2 Genopedia 1 0
    PCBD1 Genopedia 1 0
    CD320 Genopedia 1 0
    VEGFA Genopedia 1 0
    SLC25A15 Genopedia 1 0
    AHCY Genopedia 1 0
    ALOX5 Genopedia 1 0
    GALT Genopedia 1 0
    APOB Genopedia 1 0
    SUCLG1 Genopedia 1 0
    HFE Genopedia 1 0
    ACADM Genopedia 1 1
    ARG2 Genopedia 1 0
    LAMP2 Genopedia 1 0
    Ppara Genopedia 1 0
    COMT Genopedia 1 0
    ADRA2B Genopedia 1 0
    Nr1h4 Genopedia 1 0
    ACAT1 Genopedia 1 0
    LMBRD1 Genopedia 1 0
    SLC17A1 Genopedia 1 0
    ADRB1 Genopedia 1 0
    Xbp1 Genopedia 1 0
    Crot Genopedia 1 0
    RDBP Genopedia 1 0
    RAB27A Genopedia 1 0
    RFC1 Genopedia 1 0
    MMAB 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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