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Phenopedia


Amino Acid Metabolism, Inborn Errors

123 genes has been reported with Amino Acid Metabolism, Inborn Errors
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Associated Gene
Total Publication
Meta-analysis Publication
    MTHFR Genopedia 288 10
    PAH Genopedia 71 1
    F5 Genopedia 25 3
    CBS Genopedia 24 1
    F2 Genopedia 22 2
    MTR Genopedia 20 1
    MTRR Genopedia 17 0
    OCA2 Genopedia 15 0
    TYR Genopedia 11 0
    SLC45A2 Genopedia 10 0
    NOS3 Genopedia 9 0
    APOE Genopedia 9 0
    SLC25A13 Genopedia 8 0
    HPS1 Genopedia 7 0
    TYRP1 Genopedia 7 0
    FOLH1 Genopedia 4 0
    TYMS Genopedia 4 0
    NDUFB3 Genopedia 4 0
    TCN2 Genopedia 4 0
    MMACHC Genopedia 4 0
    MUT Genopedia 3 0
    PTS Genopedia 3 0
    HPS3 Genopedia 3 0
    SHMT1 Genopedia 3 0
    GCDH Genopedia 3 0
    MC1R Genopedia 3 0
    DHFR Genopedia 3 0
    MTHFD1 Genopedia 3 0
    BHMT Genopedia 3 0
    HPS4 Genopedia 3 0
    JAK2 Genopedia 2 0
    OTC Genopedia 2 0
    QDPR Genopedia 2 0
    TCN1 Genopedia 2 0
    GP1BA Genopedia 2 0
    OA1 Genopedia 2 0
    GPR143 Genopedia 2 0
    SERPINE1 Genopedia 2 0
    PCCB Genopedia 2 0
    PCCA Genopedia 2 0
    GCH1 Genopedia 2 0
    SLC24A5 Genopedia 2 0
    MS Genopedia 2 1
    NNMT Genopedia 2 0
    ACE Genopedia 2 0
    ACSF3 Genopedia 2 0
    MMAA Genopedia 2 0
    BTD Genopedia 2 0
    MCEE Genopedia 1 0
    IVD Genopedia 1 0
    ACAT1 Genopedia 1 0
    SLCO1B1 Genopedia 1 0
    GCSH Genopedia 1 0
    AMT Genopedia 1 0
    BCHE 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
    PRF1 Genopedia 1 0
    PRODH Genopedia 1 0
    RET Genopedia 1 0
    SLC17A1 Genopedia 1 0
    RDBP Genopedia 1 0
    AP3B1 Genopedia 1 0
    GLDC Genopedia 1 0
    MTHFD2 Genopedia 1 0
    DNMT3A Genopedia 1 0
    ETFDH 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
    SERPINA1 Genopedia 1 1
    ENOSF1 Genopedia 1 0
    LMBRD1 Genopedia 1 0
    SLC19A1 Genopedia 1 0
    ACADSB Genopedia 1 0
    AGTR1 Genopedia 1 0
    XBP1 Genopedia 1 0
    IKBKAP Genopedia 1 0
    HERC2 Genopedia 1 0
    HPS6 Genopedia 1 0
    AHCY Genopedia 1 0
    FOLR1 Genopedia 1 0
    APOB Genopedia 1 0
    PCBD1 Genopedia 1 0
    PLAT Genopedia 1 0
    PON1 Genopedia 1 0
    RAB27A Genopedia 1 0
    TNFAIP1 Genopedia 1 0
    C2 Genopedia 1 0
    ABHD5 Genopedia 1 0
    BCKDHA Genopedia 1 0
    HCC Genopedia 1 0
    COMT Genopedia 1 0
    CPT2 Genopedia 1 0
    HIBCH Genopedia 1 0
    GCHFR Genopedia 1 0
    MMADHC Genopedia 1 0
    HFE Genopedia 1 0
    SUCLG1 Genopedia 1 0
    UCP2 Genopedia 1 0
    SVEP1 Genopedia 1 0
    HMGA2 Genopedia 1 1
    STK19 Genopedia 1 0
    PON2 Genopedia 1 0
    HPS5 Genopedia 1 0
    BHMT2 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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