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Phenopedia


Nervous System Malformations

402 genes has been reported with Nervous System Malformations
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Associated Gene
Total Publication
Meta-analysis Publication
    MTHFR Genopedia 101 10
    PMP22 Genopedia 23 0
    MTRR Genopedia 20 5
    MTHFD1 Genopedia 20 3
    MTR Genopedia 20 5
    GJB1 Genopedia 18 0
    RFC1 Genopedia 17 0
    MFN2 Genopedia 16 0
    CBS Genopedia 15 1
    MPZ Genopedia 14 0
    SPAST Genopedia 12 0
    BHMT Genopedia 10 1
    SLC19A1 Genopedia 9 2
    DHFR Genopedia 9 0
    SHMT1 Genopedia 9 1
    KRIT1 Genopedia 8 0
    FOLH1 Genopedia 7 0
    SHH Genopedia 7 0
    TCN2 Genopedia 7 0
    EGR2 Genopedia 6 0
    FOLR2 Genopedia 6 0
    REEP1 Genopedia 6 0
    ATL1 Genopedia 6 0
    HSPB1 Genopedia 6 0
    SPG7 Genopedia 6 0
    TYMS Genopedia 6 0
    FUZ Genopedia 5 2
    FOLR1 Genopedia 5 0
    UCP2 Genopedia 5 0
    NOS3 Genopedia 5 0
    BHMT2 Genopedia 5 0
    MAD2L1BP Genopedia 5 0
    ACVRL1 Genopedia 5 1
    CCM2 Genopedia 5 0
    ENG Genopedia 5 1
    PDCD10 Genopedia 4 0
    SPG11 Genopedia 4 0
    CDKN2B-AS1 Genopedia 4 1
    GLI2 Genopedia 4 0
    SH3TC2 Genopedia 4 0
    CUBN Genopedia 4 1
    LEPR Genopedia 4 0
    PDGFRA Genopedia 4 0
    NEFL Genopedia 4 0
    ZIC2 Genopedia 4 0
    CMT1A Genopedia 4 0
    IL1B Genopedia 3 0
    NIPA1 Genopedia 3 0
    LITAF Genopedia 3 0
    MMP3 Genopedia 3 0
    ANGPTL4 Genopedia 3 0
    GDAP1 Genopedia 3 0
    PEMT Genopedia 3 1
    VANGL1 Genopedia 3 0
    ALDH1A2 Genopedia 3 0
    CYP7B1 Genopedia 3 0
    FZD3 Genopedia 3 0
    FOLR3 Genopedia 3 0
    COMT Genopedia 3 0
    IL6 Genopedia 3 0
    GART Genopedia 3 1
    APOE Genopedia 3 0
    MUT Genopedia 3 1
    PTEN Genopedia 3 0
    SLC2A1 Genopedia 3 0
    SOD1 Genopedia 3 0
    NAT1 Genopedia 3 0
    MTHFD2 Genopedia 3 0
    PCMT1 Genopedia 3 0
    DNMT3A Genopedia 3 0
    NAT2 Genopedia 3 0
    FGFR1 Genopedia 3 0
    LEP Genopedia 3 0
    VEGFA Genopedia 3 0
    RARA Genopedia 2 0
    SIX3 Genopedia 2 0
    TUBA1A Genopedia 2 0
    SLC2A2 Genopedia 2 0
    KRAS Genopedia 2 0
    NOG Genopedia 2 0
    LMNA Genopedia 2 0
    MMP9 Genopedia 2 0
    PAX3 Genopedia 2 0
    CD320 Genopedia 2 0
    HK1 Genopedia 2 0
    BSCL2 Genopedia 2 0
    ADA Genopedia 2 0
    PROKR2 Genopedia 2 0
    CITED2 Genopedia 2 0
    GAMT Genopedia 2 1
    ENPP1 Genopedia 2 0
    NNMT Genopedia 2 0
    NOS2 Genopedia 2 0
    SPG3A Genopedia 2 0
    IGHMBP2 Genopedia 2 0
    ARHGEF10 Genopedia 2 0
    CTH Genopedia 2 0
    SOD2 Genopedia 2 0
    VANGL2 Genopedia 2 0
    FTO Genopedia 2 0
    FA2H Genopedia 2 0
    TGFB1 Genopedia 2 0
    TP53 Genopedia 2 0
    PPARG Genopedia 2 0
    MKS1 Genopedia 2 0
    NDRG1 Genopedia 2 0
    GGH Genopedia 2 0
    LRSAM1 Genopedia 2 0
    CELSR1 Genopedia 2 0
    PTK7 Genopedia 2 1
    TRDMT1 Genopedia 2 0
    NOS1 Genopedia 2 0
    SPG21 Genopedia 2 0
    FGF8 Genopedia 2 0
    CDKN2A Genopedia 2 0
    CYP1A2 Genopedia 2 0
    CYP26A1 Genopedia 2 0
    DCX Genopedia 2 0
    RARG Genopedia 2 0
    POLG Genopedia 2 0
    KIF5A Genopedia 2 0
    ADRB3 Genopedia 2 0
    SARDH Genopedia 2 1
    HSPD1 Genopedia 2 0
    FTCD Genopedia 2 1
    PPARGC1A Genopedia 2 0
    PROK2 Genopedia 2 0
    FZD6 Genopedia 2 0
    FLNA Genopedia 2 0
    PAFAH1B1 Genopedia 2 0
    TGFBR2 Genopedia 2 0
    PRX Genopedia 2 0
    PCYT1A Genopedia 2 0
    FPGS Genopedia 2 0
    FUT2 Genopedia 2 0
    TCF7L2 Genopedia 2 0
    GNMT Genopedia 2 0
    CYP26B1 Genopedia 2 0
    ALDH1L1 Genopedia 2 1
    TUBB2B Genopedia 2 0
    TNF Genopedia 2 0
    ZIC3 Genopedia 2 0
    IKBKAP Genopedia 2 0
    T Genopedia 2 0
    BRCA1 Genopedia 2 0
    NTRK1 Genopedia 2 0
    SLC46A1 Genopedia 2 0
    AHCY Genopedia 2 0
    ZFYVE26 Genopedia 2 0
    F5 Genopedia 2 0
    LRP2 Genopedia 2 0
    MAT2A Genopedia 2 0
    EPHB4 Genopedia 2 0
    HINT1 Genopedia 2 0
    HLA-DRB1 Genopedia 2 0
    APOB Genopedia 2 0
    PON1 Genopedia 2 0
    C10orf92 Genopedia 1 0
    CSGALNACT1 Genopedia 1 0
    PARD3 Genopedia 1 0
    PTPN14 Genopedia 1 0
    RBBP8 Genopedia 1 1
    ROCK1 Genopedia 1 0
    MSGN1 Genopedia 1 0
    Slc2a2 Genopedia 1 0
    FBN1 Genopedia 1 0
    HEPACAM Genopedia 1 0
    CCT5 Genopedia 1 0
    ATP13A2 Genopedia 1 0
    ALK Genopedia 1 0
    GDF2 Genopedia 1 0
    DLL1 Genopedia 1 0
    AHR Genopedia 1 0
    CHM Genopedia 1 0
    OR14L1P Genopedia 1 1
    RDH10 Genopedia 1 0
    DYNC1H1 Genopedia 1 0
    DPEP1 Genopedia 1 0
    OGG1 Genopedia 1 0
    SOX17 Genopedia 1 1
    ATP6 Genopedia 1 0
    ND2 Genopedia 1 0
    TK1 Genopedia 1 0
    TLR4 Genopedia 1 0
    ZIC1 Genopedia 1 0
    ALX1 Genopedia 1 0
    CD14 Genopedia 1 0
    SLC12A6 Genopedia 1 0
    HESX1 Genopedia 1 0
    C12orf65 Genopedia 1 0
    TSC1 Genopedia 1 0
    XRCC3 Genopedia 1 0
    IL1A Genopedia 1 0
    KIF2A Genopedia 1 0
    LAMA2 Genopedia 1 0
    LFNG Genopedia 1 0
    TAG Genopedia 1 1
    MMP2 Genopedia 1 0
    NOX4 Genopedia 1 0
    ABCC2 Genopedia 1 0
    DVL2 Genopedia 1 0
    TYMP Genopedia 1 0
    MORC2 Genopedia 1 0
    ZHX2 Genopedia 1 0
    KIF1B Genopedia 1 0
    DDHD2 Genopedia 1 0
    WNK1 Genopedia 1 0
    HOXB@ Genopedia 1 0
    TFAP2A Genopedia 1 0
    TIMP1 Genopedia 1 0
    ALS5 Genopedia 1 0
    CDX1 Genopedia 1 0
    MTHFS Genopedia 1 0
    SUFU Genopedia 1 0
    PMP2 Genopedia 1 0
    RARB Genopedia 1 0
    CCL2 Genopedia 1 0
    TUBG1 Genopedia 1 0
    RAB7A Genopedia 1 0
    SLC35A2 Genopedia 1 0
    PRNP Genopedia 1 0
    TRNL2 Genopedia 1 0
    FLT1 Genopedia 1 0
    LMNB1 Genopedia 1 0
    CHCHD10 Genopedia 1 0
    MTHFD1L Genopedia 1 0
    GARS Genopedia 1 0
    AMD1 Genopedia 1 0
    HOXA@ Genopedia 1 0
    ITGB8 Genopedia 1 0
    CYP46A1 Genopedia 1 0
    KIF3A Genopedia 1 0
    CHKA Genopedia 1 0
    CRABP1 Genopedia 1 0
    CYP1A1 Genopedia 1 0
    CYP2B6 Genopedia 1 0
    CYP2C19 Genopedia 1 0
    DPP6 Genopedia 1 0
    MED25 Genopedia 1 0
    SLC25A32 Genopedia 1 0
    GAN Genopedia 1 0
    SLC7A5 Genopedia 1 0
    OR2G2 Genopedia 1 1
    CARM1 Genopedia 1 0
    CFL1 Genopedia 1 0
    RAB7B Genopedia 1 0
    PADI4 Genopedia 1 0
    MAT2B Genopedia 1 0
    HLA-DRB3 Genopedia 1 0
    HMOX1 Genopedia 1 0
    PRMT1 Genopedia 1 0
    APEX1 Genopedia 1 0
    ARG2 Genopedia 1 0
    LRP6 Genopedia 1 0
    SMAD4 Genopedia 1 0
    ATIC Genopedia 1 0
    SERPINI1 Genopedia 1 0
    NBPF1 Genopedia 1 0
    PTCH1 Genopedia 1 0
    ACTB Genopedia 1 0
    ITPK1 Genopedia 1 0
    HSN2 Genopedia 1 0
    ND3 Genopedia 1 0
    COX1 Genopedia 1 0
    SULT1A1 Genopedia 1 0
    TCN1 Genopedia 1 0
    TERC Genopedia 1 0
    DNMT1 Genopedia 1 0
    DLC1 Genopedia 1 0
    SPTLC1 Genopedia 1 0
    FGD4 Genopedia 1 0
    COX6A1 Genopedia 1 0
    GLI1 Genopedia 1 0
    OR4N4 Genopedia 1 1
    HHEX Genopedia 1 0
    HLA-A Genopedia 1 0
    PRMT2 Genopedia 1 0
    IGFALS Genopedia 1 0
    IL17A Genopedia 1 0
    LIG3 Genopedia 1 0
    MAT1A Genopedia 1 0
    MGMT Genopedia 1 0
    NGF Genopedia 1 0
    TUBA8 Genopedia 1 0
    PLP1 Genopedia 1 0
    TWSG1 Genopedia 1 0
    NOTCH4 Genopedia 1 0
    OPHN1 Genopedia 1 0
    TUBB Genopedia 1 0
    F2 Genopedia 1 0
    RNR2 Genopedia 1 0
    SLC2A3 Genopedia 1 0
    BRAF Genopedia 1 0
    TSC2 Genopedia 1 0
    USH2A Genopedia 1 0
    CRADD Genopedia 1 0
    IFNL4 Genopedia 1 0
    PNPLA6 Genopedia 1 0
    WDHD1 Genopedia 1 0
    CYP2U1 Genopedia 1 0
    OR2T4 Genopedia 1 1
    CRABP2 Genopedia 1 0
    CYP1B1 Genopedia 1 0
    MMAA Genopedia 1 0
    ARX Genopedia 1 0
    DNMT3B Genopedia 1 0
    SMG6 Genopedia 1 0
    ICMT Genopedia 1 0
    GCSH Genopedia 1 0
    GIF Genopedia 1 0
    LAT Genopedia 1 0
    NDOR1 Genopedia 1 0
    AMT Genopedia 1 0
    HLA-DQB1 Genopedia 1 0
    HSPA8 Genopedia 1 0
    PRPH Genopedia 1 0
    ITGB1 Genopedia 1 0
    RBPJP1 Genopedia 1 0
    HSP90B2P Genopedia 1 0
    ARID1A Genopedia 1 0
    MYO1E Genopedia 1 0
    PTGIS Genopedia 1 0
    INF2 Genopedia 1 0
    CYP4F12 Genopedia 1 0
    ADAM17 Genopedia 1 0
    MTMR2 Genopedia 1 0
    TMEM67 Genopedia 1 0
    ABCG2 Genopedia 1 0
    KIAA0415 Genopedia 1 0
    TIMP2 Genopedia 1 0
    TIMP4 Genopedia 1 0
    VIP Genopedia 1 0
    XRCC1 Genopedia 1 0
    GGCT Genopedia 1 0
    CASP9 Genopedia 1 0
    SHROOM3 Genopedia 1 0
    RAC2 Genopedia 1 0
    BDNF Genopedia 1 0
    COX2 Genopedia 1 0
    DEPDC5 Genopedia 1 0
    Vangl2 Genopedia 1 1
    SHROOM2 Genopedia 1 0
    IL6R Genopedia 1 0
    KCNQ1 Genopedia 1 0
    KDR Genopedia 1 0
    KIF5C Genopedia 1 0
    MSR1 Genopedia 1 0
    MSX2 Genopedia 1 0
    MS Genopedia 1 5
    PRKACB Genopedia 1 0
    COL4A1 Genopedia 1 0
    CREBBP Genopedia 1 0
    HSPB8 Genopedia 1 0
    GCH1 Genopedia 1 0
    GLDC Genopedia 1 0
    GLI3 Genopedia 1 0
    HLA-DRB4 Genopedia 1 0
    DNAJB2 Genopedia 1 0
    NOP56 Genopedia 1 1
    SPG41 Genopedia 1 0
    DVL1 Genopedia 1 0
    C9orf72 Genopedia 1 0
    EP300 Genopedia 1 0
    ERCC2 Genopedia 1 0
    AKT1 Genopedia 1 0
    ABCD1 Genopedia 1 0
    TRIM2 Genopedia 1 0
    SCRIB Genopedia 1 0
    TXN2 Genopedia 1 0
    COL9A1 Genopedia 1 0
    PRICKLE1 Genopedia 1 0
    CYP2D6 Genopedia 1 0
    TUBB3 Genopedia 1 0
    FOPNL Genopedia 1 0
    IL28B Genopedia 1 0
    CNTNAP2 Genopedia 1 0
    GCKR Genopedia 1 0
    SPG20 Genopedia 1 0
    HLA-B Genopedia 1 0
    HLA-DRB5 Genopedia 1 0
    CYP26C1 Genopedia 1 0
    IL1RN Genopedia 1 0
    IL4 Genopedia 1 0
    IRF6 Genopedia 1 0
    KAL1 Genopedia 1 0
    COQ3 Genopedia 1 0
    RELN Genopedia 1 0
    GBA2 Genopedia 1 0
    MSX1 Genopedia 1 0
    L1CAM Genopedia 1 0
    SHMT2 Genopedia 1 0
    BMP4 Genopedia 1 0
    BMPR1A Genopedia 1 0
    ND5 Genopedia 1 0
    ACTG1 Genopedia 1 0
    C7orf49 Genopedia 1 0
    C19orf12 Genopedia 1 0
    DISP1 Genopedia 1 0
    NKD2 Genopedia 1 0
    RNMT Genopedia 1 0
    SEMA5A Genopedia 1 0
    VLDLR 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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