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Phenopedia


Ataxia

We have to retire this site due to some reasons. This site has not longer been updated and some links are not working properly.
378 genes has been reported with Ataxia
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Associated Gene
Total Publication
Meta-analysis Publication
    ATM Genopedia 118 18
    FMR1 Genopedia 48 0
    ATXN2 Genopedia 35 2
    ATXN3 Genopedia 32 0
    ATXN1 Genopedia 25 0
    CACNA1A Genopedia 24 0
    TBP Genopedia 16 0
    ATXN7 Genopedia 15 0
    FXN Genopedia 14 1
    TP53 Genopedia 12 1
    ATN1 Genopedia 11 0
    ATXN8OS Genopedia 10 0
    KLHL1AS Genopedia 7 0
    KCNC3 Genopedia 7 0
    ITPR1 Genopedia 6 0
    CHEK2 Genopedia 6 0
    BRCA1 Genopedia 6 0
    PPP2R2B Genopedia 6 0
    ATXN8 Genopedia 6 0
    NBN Genopedia 5 0
    ATR Genopedia 5 0
    BRCA2 Genopedia 5 0
    SPTBN2 Genopedia 5 0
    FRAXA Genopedia 5 0
    ATXN10 Genopedia 5 0
    PLEKHG4 Genopedia 4 0
    GAA Genopedia 4 0
    MECP2 Genopedia 4 0
    C9orf72 Genopedia 4 0
    TTBK2 Genopedia 4 0
    FGF14 Genopedia 4 0
    MRE11A Genopedia 4 0
    ATP6 Genopedia 4 0
    POLG Genopedia 4 0
    TRNK Genopedia 3 0
    TRNL1 Genopedia 3 0
    TGFB1 Genopedia 3 0
    PRKCG Genopedia 3 0
    JPH3 Genopedia 3 0
    RAD51 Genopedia 3 0
    EGFR Genopedia 3 0
    NOP56 Genopedia 3 0
    HTT Genopedia 3 0
    APEX1 Genopedia 3 0
    SETX Genopedia 3 0
    SYNE1 Genopedia 3 0
    COQ2 Genopedia 3 0
    SACS Genopedia 3 0
    XRCC1 Genopedia 3 0
    XRCC3 Genopedia 3 0
    XRCC4 Genopedia 2 0
    XRCC5 Genopedia 2 0
    XRCC2 Genopedia 2 0
    XPA Genopedia 2 0
    XPC Genopedia 2 0
    CCNH Genopedia 2 0
    CASP3 Genopedia 2 0
    BRIP1 Genopedia 2 0
    MSH6 Genopedia 2 0
    XRCC6 Genopedia 2 0
    RAD54B Genopedia 2 0
    APOE Genopedia 2 0
    HD Genopedia 2 0
    MGMT Genopedia 2 0
    LY6E Genopedia 2 0
    KRAS Genopedia 2 0
    LIG1 Genopedia 2 0
    LIG3 Genopedia 2 0
    LIG4 Genopedia 2 0
    CDK7 Genopedia 2 0
    RAD50 Genopedia 2 0
    CHEK1 Genopedia 2 0
    SCA19 Genopedia 2 0
    PARP1 Genopedia 2 0
    PARP4 Genopedia 2 0
    FANCG Genopedia 2 0
    FANCD2 Genopedia 2 0
    ERCC1 Genopedia 2 0
    ERCC2 Genopedia 2 0
    ERCC4 Genopedia 2 0
    ERCC5 Genopedia 2 0
    RAD51C Genopedia 2 0
    RECQL Genopedia 2 0
    PRKDC Genopedia 2 0
    PTEN Genopedia 2 0
    NEIL3 Genopedia 2 0
    SAR1A Genopedia 2 0
    TNF Genopedia 2 0
    trnK Genopedia 2 0
    STK11 Genopedia 2 0
    SPG7 Genopedia 2 0
    SNCA Genopedia 2 1
    DCLRE1C Genopedia 2 0
    RAD23B Genopedia 2 0
    RAD9A Genopedia 2 0
    RAD52 Genopedia 2 0
    MSH2 Genopedia 2 0
    MSH3 Genopedia 2 0
    MLH1 Genopedia 2 0
    PDYN Genopedia 2 0
    PMS2 Genopedia 2 0
    POLB Genopedia 2 0
    PCNA Genopedia 2 0
    PIK3CA Genopedia 2 0
    ND2 Genopedia 2 0
    ND3 Genopedia 2 0
    NF1 Genopedia 2 0
    NPC1 Genopedia 2 0
    OGG1 Genopedia 2 0
    P2RY11 Genopedia 1 0
    RRM2B Genopedia 1 0
    PARK2 Genopedia 1 0
    NPHP1 Genopedia 1 0
    NT5E Genopedia 1 0
    NTHL1 Genopedia 1 0
    ATP2B3 Genopedia 1 0
    ND4 Genopedia 1 0
    ND4L Genopedia 1 0
    ND5 Genopedia 1 0
    ND6 Genopedia 1 0
    TRNA Genopedia 1 0
    TRNF Genopedia 1 0
    TRNG Genopedia 1 0
    TRNH Genopedia 1 0
    PKD1 Genopedia 1 0
    PKD2 Genopedia 1 0
    PMS1 Genopedia 1 0
    PMS2L3 Genopedia 1 0
    POLK Genopedia 1 0
    REV1 Genopedia 1 0
    NEK1 Genopedia 1 0
    POLD1 Genopedia 1 0
    POLE Genopedia 1 0
    PGR Genopedia 1 0
    POLH Genopedia 1 0
    MNAT1 Genopedia 1 0
    MPG Genopedia 1 0
    MPL Genopedia 1 0
    MSH4 Genopedia 1 0
    MSH5 Genopedia 1 0
    ATP8 Genopedia 1 0
    TRNC Genopedia 1 0
    COX1 Genopedia 1 0
    COX2 Genopedia 1 0
    COX3 Genopedia 1 0
    CYTB Genopedia 1 0
    NUDT1 Genopedia 1 0
    ND1 Genopedia 1 0
    TRNM Genopedia 1 0
    TRNN Genopedia 1 0
    TRNP Genopedia 1 0
    TRNQ Genopedia 1 0
    TRNR Genopedia 1 0
    TRNS1 Genopedia 1 0
    TRNS2 Genopedia 1 0
    TRNV Genopedia 1 0
    TRNW Genopedia 1 0
    TRNY Genopedia 1 0
    MUTYH Genopedia 1 0
    MYC Genopedia 1 0
    MYH1 Genopedia 1 0
    ATF3 Genopedia 1 0
    RB1 Genopedia 1 0
    ACE2 Genopedia 1 0
    CCND1 Genopedia 1 0
    BCL2 Genopedia 1 0
    RAD17 Genopedia 1 0
    RAD23A Genopedia 1 0
    BIK Genopedia 1 0
    SDHA Genopedia 1 0
    BLM Genopedia 1 0
    MMS19 Genopedia 1 0
    SFTPC Genopedia 1 0
    MTHFSD Genopedia 1 0
    DCLRE1B Genopedia 1 0
    REEP1 Genopedia 1 0
    SLC2A3 Genopedia 1 0
    SLC22A3 Genopedia 1 0
    SMARCB1 Genopedia 1 0
    SOD2 Genopedia 1 0
    BRAF Genopedia 1 0
    TNR Genopedia 1 0
    TOP2A Genopedia 1 0
    TOP2B Genopedia 1 0
    RAD18 Genopedia 1 0
    XAB2 Genopedia 1 0
    SCA16 Genopedia 1 0
    TDP1 Genopedia 1 0
    MAP2K1 Genopedia 1 0
    PRNP Genopedia 1 0
    PPAN Genopedia 1 0
    AHI1 Genopedia 1 0
    APTX Genopedia 1 0
    FANCL Genopedia 1 0
    ANO10 Genopedia 1 0
    ARMC4 Genopedia 1 0
    DARS2 Genopedia 1 0
    RET Genopedia 1 0
    REV3L Genopedia 1 0
    RFC1 Genopedia 1 0
    ELOVL5 Genopedia 1 0
    RNR1 Genopedia 1 0
    RPA1 Genopedia 1 0
    RPA2 Genopedia 1 0
    RPA3 Genopedia 1 0
    RAD51D Genopedia 1 0
    RAD51L3 Genopedia 1 0
    FANCM Genopedia 1 0
    BAK1 Genopedia 1 0
    PTPN11 Genopedia 1 0
    BARD1 Genopedia 1 0
    BAX Genopedia 1 0
    RAD1 Genopedia 1 0
    ERCC6 Genopedia 1 0
    FANCA Genopedia 1 0
    FANCC Genopedia 1 0
    AKT1 Genopedia 1 0
    ERCC3 Genopedia 1 0
    FANCE Genopedia 1 0
    FANCB Genopedia 1 0
    FANCF Genopedia 1 0
    ALKBH3 Genopedia 1 0
    FEN1 Genopedia 1 0
    MLXIP Genopedia 1 0
    FOXE1 Genopedia 1 1
    EGR1 Genopedia 1 0
    EIF4A1 Genopedia 1 0
    EME2 Genopedia 1 0
    RDM1 Genopedia 1 0
    ENG Genopedia 1 0
    ERBB2 Genopedia 1 0
    AGTR1 Genopedia 1 0
    DUT Genopedia 1 0
    BEAN1 Genopedia 1 0
    EME1 Genopedia 1 0
    CNTN4 Genopedia 1 0
    ADSS Genopedia 1 0
    C11orf65 Genopedia 1 0
    ACE Genopedia 1 0
    DDB1 Genopedia 1 0
    DDB2 Genopedia 1 0
    GADD45A Genopedia 1 0
    SCA21 Genopedia 1 0
    DMPK Genopedia 1 0
    DNMT1 Genopedia 1 0
    C12orf55 Genopedia 1 0
    SCA22 Genopedia 1 0
    DMC1 Genopedia 1 0
    RASSF1 Genopedia 1 0
    TRIM28 Genopedia 1 0
    POLI Genopedia 1 0
    TREX2 Genopedia 1 0
    PRRT2 Genopedia 1 0
    TREX1 Genopedia 1 0
    PNKP Genopedia 1 0
    HELQ Genopedia 1 0
    ERCC8 Genopedia 1 0
    ABCC2 Genopedia 1 0
    SCA15 Genopedia 1 0
    CDKN1A Genopedia 1 0
    CDKN1B Genopedia 1 0
    STUB1 Genopedia 1 0
    CDKN2A Genopedia 1 0
    CDKN2B Genopedia 1 0
    MAD2L2 Genopedia 1 0
    FMR1-AS1 Genopedia 1 0
    SH2B3 Genopedia 1 0
    PARP2 Genopedia 1 0
    PARP3 Genopedia 1 0
    NPC2 Genopedia 1 0
    CETN2 Genopedia 1 0
    POLQ Genopedia 1 0
    RAI1 Genopedia 1 0
    AHCYL1 Genopedia 1 0
    CD3EAP Genopedia 1 0
    AFG3L2 Genopedia 1 0
    SCA11 Genopedia 1 0
    LMNA Genopedia 1 0
    LMNB1 Genopedia 1 0
    GTF2H5 Genopedia 1 0
    LHON Genopedia 1 0
    JAK3 Genopedia 1 0
    KCNA1 Genopedia 1 0
    SMAD4 Genopedia 1 0
    MAPT Genopedia 1 0
    MCM4 Genopedia 1 0
    MELAS Genopedia 1 0
    MET Genopedia 1 0
    POLN Genopedia 1 0
    IL1A Genopedia 1 0
    IL1B Genopedia 1 0
    IL8 Genopedia 1 0
    INS Genopedia 1 0
    AR Genopedia 1 0
    SCA13 Genopedia 1 0
    KCND3 Genopedia 1 0
    KCNJ10 Genopedia 1 0
    KDR Genopedia 1 0
    HUS1 Genopedia 1 0
    ICAM1 Genopedia 1 0
    POTEA Genopedia 1 0
    IDH1 Genopedia 1 0
    TGM6 Genopedia 1 0
    HFE Genopedia 1 0
    HLA-DQB1 Genopedia 1 0
    HLA-DRB1 Genopedia 1 0
    APC Genopedia 1 0
    SCA4 Genopedia 1 0
    GALT Genopedia 1 0
    ATP13A2 Genopedia 1 0
    ZFYVE26 Genopedia 1 0
    SMUG1 Genopedia 1 0
    SPO11 Genopedia 1 0
    PRND Genopedia 1 0
    FRAXE Genopedia 1 0
    NEIL2 Genopedia 1 0
    FRDA2 Genopedia 1 0
    GTF2H1 Genopedia 1 0
    GTF2H3 Genopedia 1 0
    GTF2H4 Genopedia 1 0
    RPA4 Genopedia 1 0
    H2AFX Genopedia 1 0
    HCRT Genopedia 1 0
    GBA Genopedia 1 0
    GFAP Genopedia 1 0
    MLH3 Genopedia 1 0
    APEX2 Genopedia 1 0
    POLL Genopedia 1 0
    POLM Genopedia 1 0
    GNAS Genopedia 1 0
    FLJ35220 Genopedia 1 0
    GRID2 Genopedia 1 0
    GRIK2 Genopedia 1 0
    GRM1 Genopedia 1 0
    DDX25 Genopedia 1 0
    CD274 Genopedia 1 0
    RAD54L Genopedia 1 0
    CAT Genopedia 1 0
    EIF3G Genopedia 1 0
    EIF2B5 Genopedia 1 0
    MBD4 Genopedia 1 0
    C7orf49 Genopedia 1 0
    NEIL1 Genopedia 1 0
    PALB2 Genopedia 1 0
    SHFM1 Genopedia 1 0
    NHEJ1 Genopedia 1 0
    LRRTM4 Genopedia 1 0
    CEP290 Genopedia 1 0
    MUS81 Genopedia 1 0
    SMC1A Genopedia 1 0
    ERDA1 Genopedia 1 0
    C19orf40 Genopedia 1 0
    EXO1 Genopedia 1 0
    ACVRL1 Genopedia 1 0
    RECQL5 Genopedia 1 0
    SCA18 Genopedia 1 0
    RECQL4 Genopedia 1 0
    MED23 Genopedia 1 0
    BAG3 Genopedia 1 0
    ZNF592 Genopedia 1 0
    MDC1 Genopedia 1 0
    PUM1 Genopedia 1 0
    ProSAPiP1 Genopedia 1 0
    CDA Genopedia 1 0
    MFN2 Genopedia 1 0
    DCLRE1A Genopedia 1 0
    CDH1 Genopedia 1 0
    TDG Genopedia 1 0
    TEP1 Genopedia 1 0
    UBE2A Genopedia 1 0
    UBE2B Genopedia 1 0
    UBE2N Genopedia 1 0
    UBE2V1 Genopedia 1 0
    UNG Genopedia 1 0
    WRN Genopedia 1 0
    TP53BP1 Genopedia 1 0
    TP53BP2 Genopedia 1 0
    TRPC3 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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