Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content
HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Deficiency Diseases

178 genes has been reported with Deficiency Diseases
[Click Sort to re-sort the table]
Associated Gene
Total Publication
Meta-analysis Publication
    VDR Genopedia 89 7
    MTHFR Genopedia 84 3
    CYP2R1 Genopedia 51 2
    GC Genopedia 49 1
    DHCR7 Genopedia 28 2
    CYP24A1 Genopedia 26 2
    CYP27B1 Genopedia 20 1
    TCN2 Genopedia 12 0
    NADSYN1 Genopedia 10 0
    MTRR Genopedia 9 0
    DBP Genopedia 8 0
    MTR Genopedia 8 0
    NDUFB3 Genopedia 8 1
    RFC1 Genopedia 7 0
    APOE Genopedia 5 0
    CYP27A1 Genopedia 5 1
    PTH Genopedia 5 1
    TYMS Genopedia 5 0
    CDX2 Genopedia 4 1
    HLA-DRB1 Genopedia 4 0
    MTHFD1 Genopedia 4 0
    ZNF410 Genopedia 4 1
    BHMT Genopedia 4 0
    DHFR Genopedia 4 0
    SHMT1 Genopedia 4 0
    GSTP1 Genopedia 3 0
    CD320 Genopedia 3 0
    IL28B Genopedia 3 0
    MC1R Genopedia 3 1
    PON1 Genopedia 3 0
    SLC19A1 Genopedia 3 0
    FOLH1 Genopedia 3 0
    TCN1 Genopedia 3 0
    PEMT Genopedia 3 0
    CASR Genopedia 2 0
    IL13 Genopedia 2 0
    FCER1A Genopedia 2 0
    FLG Genopedia 2 1
    TLR2 Genopedia 2 1
    FUT6 Genopedia 2 0
    F5 Genopedia 2 0
    CBS Genopedia 2 0
    IL4 Genopedia 2 0
    COX8A Genopedia 2 1
    MUT Genopedia 2 0
    MMACHC Genopedia 2 0
    CRP Genopedia 2 0
    F2 Genopedia 2 0
    MS4A2 Genopedia 2 0
    GSTM1 Genopedia 2 0
    GSTT1 Genopedia 2 0
    ACADM Genopedia 2 0
    RXRG Genopedia 2 0
    BRAF Genopedia 2 0
    CUBN Genopedia 2 0
    SLC25A18 Genopedia 1 0
    GGH Genopedia 1 0
    HNF1B Genopedia 1 0
    GNB2L1 Genopedia 1 1
    TC2N Genopedia 1 0
    ITPA Genopedia 1 0
    NDUFA3 Genopedia 1 0
    PPAT Genopedia 1 0
    A2BP1 Genopedia 1 0
    PDXP Genopedia 1 0
    ABCD4 Genopedia 1 0
    HP Genopedia 1 0
    HTR2A Genopedia 1 0
    ANO9 Genopedia 1 0
    GPR114 Genopedia 1 0
    PTPN22 Genopedia 1 0
    KIF4B Genopedia 1 0
    CYP26A1 Genopedia 1 0
    NQO1 Genopedia 1 0
    TRDMT1 Genopedia 1 0
    EGFR Genopedia 1 0
    ANO6 Genopedia 1 0
    SLCO1B1 Genopedia 1 0
    CFTR Genopedia 1 0
    CYP1B1 Genopedia 1 0
    MYO5A Genopedia 1 1
    BGLAP Genopedia 1 0
    VKORC1 Genopedia 1 0
    DTNBP1 Genopedia 1 1
    DAB1 Genopedia 1 0
    MMAA Genopedia 1 0
    F7 Genopedia 1 0
    DKK1 Genopedia 1 1
    TAS2R39 Genopedia 1 0
    LCT Genopedia 1 0
    MGP Genopedia 1 0
    LACC1 Genopedia 1 0
    IMMT Genopedia 1 0
    PKP3 Genopedia 1 0
    IL17F Genopedia 1 0
    DPYS Genopedia 1 0
    PLCB1 Genopedia 1 0
    PLDN Genopedia 1 1
    IL10 Genopedia 1 0
    IRF4 Genopedia 1 0
    KRAS Genopedia 1 0
    CHDH Genopedia 1 0
    ORM1 Genopedia 1 0
    PAX3 Genopedia 1 1
    RXRA Genopedia 1 0
    NACA2 Genopedia 1 0
    IL4R Genopedia 1 0
    MS Genopedia 1 0
    DPYD Genopedia 1 0
    FCER1G Genopedia 1 0
    ALPP Genopedia 1 0
    GSR Genopedia 1 0
    RET Genopedia 1 0
    RXRB Genopedia 1 0
    NAT2 Genopedia 1 0
    COL1A1 Genopedia 1 0
    FTO Genopedia 1 0
    MLPH Genopedia 1 1
    SLC44A4 Genopedia 1 0
    CASP9 Genopedia 1 0
    MUTED Genopedia 1 1
    PMEL Genopedia 1 1
    BRCA1 Genopedia 1 0
    BRCA2 Genopedia 1 0
    TLR4 Genopedia 1 0
    SLC17A5 Genopedia 1 0
    DPEP1 Genopedia 1 0
    INMT Genopedia 1 0
    SLC46A1 Genopedia 1 0
    CLYBL Genopedia 1 0
    RAB27A Genopedia 1 1
    SIGIRR Genopedia 1 0
    IL1B Genopedia 1 0
    IL13RA1 Genopedia 1 0
    MS Genopedia 1 0
    GGCX Genopedia 1 0
    DIEXF Genopedia 1 0
    GNMT Genopedia 1 0
    NRG1 Genopedia 1 0
    MCM6 Genopedia 1 0
    MITF Genopedia 1 1
    NOX4 Genopedia 1 0
    CYP26B1 Genopedia 1 0
    MLL3 Genopedia 1 0
    TNF Genopedia 1 0
    SOX10 Genopedia 1 1
    ABCC2 Genopedia 1 0
    CNR1 Genopedia 1 1
    Vdr Genopedia 1 0
    FPGS Genopedia 1 0
    FUT2 Genopedia 1 0
    C10orf88 Genopedia 1 0
    HERC2 Genopedia 1 0
    PTHLH Genopedia 1 0
    COG2 Genopedia 1 0
    FOLR3 Genopedia 1 0
    MMD Genopedia 1 0
    GPT Genopedia 1 0
    MEFV Genopedia 1 0
    TRPM7 Genopedia 1 0
    COMT Genopedia 1 0
    CYP2C9 Genopedia 1 0
    CYP3A4 Genopedia 1 0
    TNFAIP1 Genopedia 1 0
    FGF23 Genopedia 1 0
    SLC22A6 Genopedia 1 0
    ALDH1A2 Genopedia 1 0
    MED24 Genopedia 1 0
    MED16 Genopedia 1 0
    CYP1A1 Genopedia 1 0
    ARID2 Genopedia 1 0
    BHMT2 Genopedia 1 0
    GPX1 Genopedia 1 0
    INS Genopedia 1 0
    NOVA2 Genopedia 1 0
    ATP7A Genopedia 1 1
    PTGS2 Genopedia 1 0
    TYRP1 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.
TOP