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Phenopedia


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