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Phenopedia


Mitochondrial Diseases

146 genes has been reported with Mitochondrial Diseases
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Associated Gene
Total Publication
Meta-analysis Publication
    TRNL1 Genopedia 26 0
    POLG Genopedia 17 0
    ND1 Genopedia 11 1
    ND4 Genopedia 11 1
    ND6 Genopedia 10 1
    FXN Genopedia 10 1
    trnK Genopedia 9 0
    OPA1 Genopedia 9 0
    ND1 Genopedia 8 0
    ND6 Genopedia 8 0
    ND4 Genopedia 8 0
    ND5 Genopedia 6 0
    MELAS Genopedia 6 0
    C10orf2 Genopedia 5 0
    ATP6 Genopedia 5 0
    RNR1 Genopedia 4 0
    ATP6 Genopedia 4 0
    ND5 Genopedia 4 0
    RRM2B Genopedia 4 0
    GSTM1 Genopedia 3 0
    SURF1 Genopedia 3 0
    SLC25A4 Genopedia 3 0
    OPA3 Genopedia 3 0
    TRNS1 Genopedia 3 0
    POLG2 Genopedia 3 0
    TRNL2 Genopedia 3 0
    trnV Genopedia 2 0
    TRNK Genopedia 2 0
    GAA Genopedia 2 0
    COX1 Genopedia 2 0
    trnQ Genopedia 2 0
    TYMP Genopedia 2 0
    trnE Genopedia 2 0
    FAS Genopedia 2 0
    CYTB Genopedia 2 0
    MTIF3 Genopedia 2 0
    ND2 Genopedia 2 0
    CYTB Genopedia 2 0
    TP53 Genopedia 2 0
    GSTT1 Genopedia 2 0
    RDH12 Genopedia 2 0
    ACADVL Genopedia 2 0
    ATXN3 Genopedia 1 0
    TRNV Genopedia 1 0
    trnF Genopedia 1 0
    TNNT2 Genopedia 1 0
    SUCLA2 Genopedia 1 0
    ACE Genopedia 1 0
    NQO1 Genopedia 1 0
    EPHX1 Genopedia 1 0
    HD Genopedia 1 0
    ACADM Genopedia 1 0
    AR Genopedia 1 0
    CYCS Genopedia 1 0
    PEO1 Genopedia 1 0
    TRNAL2 Genopedia 1 0
    trnC Genopedia 1 0
    TRNE Genopedia 1 0
    PTEN Genopedia 1 0
    OPA4 Genopedia 1 0
    MTHFR Genopedia 1 0
    LHON Genopedia 1 0
    ATN1 Genopedia 1 0
    PRPF6 Genopedia 1 0
    GJB2 Genopedia 1 0
    COQ2 Genopedia 1 0
    CASP3 Genopedia 1 0
    trnH Genopedia 1 0
    ATP8 Genopedia 1 0
    trnW Genopedia 1 0
    TK2 Genopedia 1 0
    TNNI3 Genopedia 1 0
    COLEC12 Genopedia 1 1
    TRNR Genopedia 1 0
    MYBPC3 Genopedia 1 0
    MYH7 Genopedia 1 0
    PNPLA2 Genopedia 1 0
    ACE2 Genopedia 1 0
    SLC22A5 Genopedia 1 0
    CRX Genopedia 1 0
    ECGF1 Genopedia 1 0
    ERG Genopedia 1 0
    GSTZ1 Genopedia 1 0
    BAK1 Genopedia 1 0
    BAX Genopedia 1 0
    SOD2 Genopedia 1 0
    trnL Genopedia 1 0
    trnG Genopedia 1 0
    CASP8 Genopedia 1 0
    NRXN1 Genopedia 1 1
    COX3 Genopedia 1 0
    CYBA Genopedia 1 0
    DMPK Genopedia 1 0
    ETFDH Genopedia 1 0
    CRB1 Genopedia 1 0
    GUCY2D Genopedia 1 0
    SDHB Genopedia 1 0
    ND4L Genopedia 1 0
    ND2 Genopedia 1 0
    PUS1 Genopedia 1 0
    MAPT Genopedia 1 0
    MPV17 Genopedia 1 0
    GLA Genopedia 1 0
    OGG1 Genopedia 1 0
    PTPN11 Genopedia 1 0
    SLC25A12 Genopedia 1 0
    C20orf72 Genopedia 1 0
    TRNS2 Genopedia 1 0
    MYL3 Genopedia 1 0
    ADCK3 Genopedia 1 0
    VARS2 Genopedia 1 0
    DGUOK Genopedia 1 0
    DNA2 Genopedia 1 0
    AGTR1 Genopedia 1 0
    SUCLG1 Genopedia 1 0
    trnN Genopedia 1 0
    OPTN Genopedia 1 1
    CPT2 Genopedia 1 0
    FRDA2 Genopedia 1 0
    MTO1 Genopedia 1 0
    HADHA Genopedia 1 0
    HFE Genopedia 1 0
    ABHD5 Genopedia 1 0
    PARL Genopedia 1 0
    BCL2 Genopedia 1 0
    RP2 Genopedia 1 0
    ATXN1 Genopedia 1 0
    ND3 Genopedia 1 0
    trnI Genopedia 1 0
    NOS3 Genopedia 1 0
    NOVA2 Genopedia 1 0
    RMND1 Genopedia 1 0
    AARS2 Genopedia 1 0
    RPE65 Genopedia 1 0
    trnT Genopedia 1 0
    AIPL1 Genopedia 1 0
    FRAXA Genopedia 1 0
    INS Genopedia 1 0
    CHCHD10 Genopedia 1 0
    RNR1 Genopedia 1 0
    trnL Genopedia 1 0
    OPA5 Genopedia 1 0
    TULP1 Genopedia 1 0
    CEP290 Genopedia 1 0
    CASP7 Genopedia 1 0
    CASP10 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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