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Phenopedia


Purine-Pyrimidine Metabolism, Inborn Errors

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177 genes has been reported with Purine-Pyrimidine Metabolism, Inborn Errors
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Associated Gene
Total Publication
Meta-analysis Publication
    ABCG2 Genopedia 44 8
    SLC2A9 Genopedia 37 6
    SLC22A12 Genopedia 18 2
    GCKR Genopedia 12 5
    SLC17A1 Genopedia 10 4
    SLC22A11 Genopedia 10 4
    DPYD Genopedia 8 0
    PDZK1 Genopedia 6 3
    LRRC16A Genopedia 5 1
    TPMT Genopedia 5 0
    NLRP3 Genopedia 5 0
    SLC16A9 Genopedia 5 3
    SLC17A3 Genopedia 5 1
    HLA-B Genopedia 4 0
    IL1B Genopedia 4 0
    MEFV Genopedia 4 0
    LRP2 Genopedia 3 0
    MAF Genopedia 3 1
    PRKG2 Genopedia 3 0
    IL8 Genopedia 3 0
    A1CF Genopedia 3 0
    CNIH2 Genopedia 3 1
    SLC17A4 Genopedia 3 1
    ALPK1 Genopedia 3 0
    TRIM46 Genopedia 2 0
    SLC17A2 Genopedia 2 0
    PPARGC1A Genopedia 2 0
    ALDH16A1 Genopedia 2 0
    COMT Genopedia 2 0
    ALDH2 Genopedia 2 0
    IL23R Genopedia 2 0
    ADRB3 Genopedia 2 0
    CARD8 Genopedia 2 0
    CUX2 Genopedia 2 1
    HLF Genopedia 2 1
    INHBC Genopedia 2 2
    HNF4G Genopedia 2 0
    HPRT1 Genopedia 2 0
    APOA1 Genopedia 2 1
    BCAS3 Genopedia 2 0
    PDE1C Genopedia 2 0
    PRKAG2 Genopedia 2 1
    IGF1R Genopedia 2 1
    KCNQ1 Genopedia 2 0
    P2RX7 Genopedia 2 0
    MYL2 Genopedia 2 1
    TLR4 Genopedia 2 0
    TNF Genopedia 2 0
    VDR Genopedia 2 0
    ZNF518B Genopedia 2 0
    RFX3 Genopedia 2 0
    ALX4 Genopedia 1 0
    RREB1 Genopedia 1 1
    BDKRB2 Genopedia 1 0
    ATXN2 Genopedia 1 0
    CCL2 Genopedia 1 0
    NOD2 Genopedia 1 0
    CSMD1 Genopedia 1 0
    SHBG Genopedia 1 0
    SMYD3 Genopedia 1 0
    SLC13A3 Genopedia 1 0
    SLC22A1 Genopedia 1 0
    STAT4 Genopedia 1 0
    STC1 Genopedia 1 0
    ABCC8 Genopedia 1 0
    TFAP2A Genopedia 1 0
    TGFB1 Genopedia 1 0
    PTPRD Genopedia 1 0
    PVT1 Genopedia 1 0
    RARB Genopedia 1 0
    OR7E2P Genopedia 1 0
    ADAM23 Genopedia 1 0
    BAZ1B Genopedia 1 0
    IL33 Genopedia 1 0
    ACVR1B Genopedia 1 0
    SLC28A2 Genopedia 1 0
    IL1RL1 Genopedia 1 0
    UBE2Q2 Genopedia 1 0
    SLC22A6 Genopedia 1 0
    SLC22A8 Genopedia 1 0
    NRXN1 Genopedia 1 0
    ACVRL1 Genopedia 1 0
    VEGFA Genopedia 1 0
    VIP Genopedia 1 1
    ELOVL6 Genopedia 1 0
    B3GNT4 Genopedia 1 0
    ALS2CR8 Genopedia 1 0
    UMOD Genopedia 1 0
    NDUFA4 Genopedia 1 0
    ATP1A4 Genopedia 1 0
    SLC22A18AS Genopedia 1 0
    MLXIPL Genopedia 1 0
    MAP3K11 Genopedia 1 0
    OR13G1 Genopedia 1 1
    KDR Genopedia 1 0
    INSC Genopedia 1 0
    KTN1 Genopedia 1 0
    DYTN Genopedia 1 0
    LIF Genopedia 1 0
    LIPC Genopedia 1 0
    IL1A Genopedia 1 0
    MAOA Genopedia 1 0
    SFMBT1 Genopedia 1 0
    PDK2 Genopedia 1 0
    PKD2 Genopedia 1 1
    UGT1A1 Genopedia 1 0
    PPARD Genopedia 1 0
    RBFOX1 Genopedia 1 0
    ATG16L1 Genopedia 1 0
    CCDC157 Genopedia 1 0
    NUDT15 Genopedia 1 0
    RELN Genopedia 1 0
    PRKCA Genopedia 1 0
    CACNA2D3 Genopedia 1 0
    APOC3 Genopedia 1 1
    HSPD1 Genopedia 1 0
    IL1R1 Genopedia 1 0
    IL4 Genopedia 1 0
    IL6 Genopedia 1 0
    INS Genopedia 1 0
    ITPA Genopedia 1 0
    LHFPL3 Genopedia 1 0
    IL10 Genopedia 1 0
    IL12B Genopedia 1 0
    IL17A Genopedia 1 1
    IL18 Genopedia 1 0
    INHBB Genopedia 1 0
    AOX1 Genopedia 1 0
    FOXA2 Genopedia 1 0
    HGF Genopedia 1 0
    HLA-A Genopedia 1 0
    HLA-C Genopedia 1 0
    HLA-DRB1 Genopedia 1 0
    HLA-DRB4 Genopedia 1 0
    IL17RA Genopedia 1 1
    FSTL4 Genopedia 1 0
    OR2L2 Genopedia 1 1
    GLI2 Genopedia 1 0
    NRBP1 Genopedia 1 0
    CYP2B6 Genopedia 1 0
    CYP2C8 Genopedia 1 0
    CYP2C9 Genopedia 1 0
    CYP2E1 Genopedia 1 0
    DBP Genopedia 1 0
    SLC2A12 Genopedia 1 0
    CYP1A2 Genopedia 1 0
    CYP2A6 Genopedia 1 0
    JAZF1 Genopedia 1 0
    R3HDM2 Genopedia 1 1
    ABCA1 Genopedia 1 0
    EGF Genopedia 1 0
    ESR1 Genopedia 1 0
    PPARGC1B Genopedia 1 0
    TMEM171 Genopedia 1 0
    CRP Genopedia 1 0
    ADAMTS14 Genopedia 1 0
    CFTR Genopedia 1 0
    SLC22A7 Genopedia 1 0
    CLNK Genopedia 1 0
    CHGA Genopedia 1 0
    SLC2A6 Genopedia 1 0
    IL17F Genopedia 1 1
    GLCCI1 Genopedia 1 0
    CHRNA3 Genopedia 1 0
    CHRNB3 Genopedia 1 0
    ABCC4 Genopedia 1 0
    NFAT5 Genopedia 1 0
    ABCC9 Genopedia 1 0
    ACTR2 Genopedia 1 0
    WNT5B Genopedia 1 0
    CASP1 Genopedia 1 0
    TPST1 Genopedia 1 0
    OR1R1P Genopedia 1 0
    ABCG1 Genopedia 1 0
    PHF14 Genopedia 1 0
    BMS1 Genopedia 1 0
    WDR1 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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