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HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Mitochondrial Diseases

138 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
    ND4 Genopedia 11 1
    ND1 Genopedia 11 1
    ND6 Genopedia 10 1
    FXN Genopedia 10 1
    OPA1 Genopedia 9 0
    trnK Genopedia 9 0
    ND6 Genopedia 8 0
    ND1 Genopedia 8 0
    ND4 Genopedia 8 0
    ND5 Genopedia 6 0
    MELAS Genopedia 6 0
    ATP6 Genopedia 5 0
    C10orf2 Genopedia 5 0
    RNR1 Genopedia 4 0
    ATP6 Genopedia 4 0
    ND5 Genopedia 4 0
    RRM2B Genopedia 4 0
    TRNL2 Genopedia 3 0
    TRNS1 Genopedia 3 0
    SLC25A4 Genopedia 3 0
    POLG2 Genopedia 3 0
    SURF1 Genopedia 3 0
    OPA3 Genopedia 3 0
    trnV Genopedia 2 0
    trnQ Genopedia 2 0
    trnE Genopedia 2 0
    CYTB Genopedia 2 0
    COX1 Genopedia 2 0
    MTIF3 Genopedia 2 0
    TYMP Genopedia 2 0
    RDH12 Genopedia 2 0
    GSTM1 Genopedia 2 0
    GAA Genopedia 2 0
    TRNK Genopedia 2 0
    CYTB Genopedia 2 0
    ND2 Genopedia 2 0
    FAS Genopedia 2 0
    ACADVL Genopedia 2 0
    LHON Genopedia 1 0
    CHCHD10 Genopedia 1 0
    MAPT Genopedia 1 0
    INS Genopedia 1 0
    AR Genopedia 1 0
    ATXN3 Genopedia 1 0
    MPV17 Genopedia 1 0
    MTHFR Genopedia 1 0
    COX3 Genopedia 1 0
    OPTN Genopedia 1 1
    RNR1 Genopedia 1 0
    TRNE Genopedia 1 0
    TRNR Genopedia 1 0
    ABHD5 Genopedia 1 0
    TRNS2 Genopedia 1 0
    TRNV Genopedia 1 0
    MYBPC3 Genopedia 1 0
    MYH7 Genopedia 1 0
    MYL3 Genopedia 1 0
    NOS3 Genopedia 1 0
    NOVA2 Genopedia 1 0
    OGG1 Genopedia 1 0
    MTO1 Genopedia 1 0
    GJB2 Genopedia 1 0
    GLA Genopedia 1 0
    COQ2 Genopedia 1 0
    PRPF6 Genopedia 1 0
    FRDA2 Genopedia 1 0
    FRAXA Genopedia 1 0
    GSTT1 Genopedia 1 0
    GSTZ1 Genopedia 1 0
    GUCY2D Genopedia 1 0
    HADHA Genopedia 1 0
    HD Genopedia 1 0
    HFE Genopedia 1 0
    ACADM Genopedia 1 0
    CYBA Genopedia 1 0
    ACE Genopedia 1 0
    DGUOK Genopedia 1 0
    NQO1 Genopedia 1 0
    DMPK Genopedia 1 0
    DNA2 Genopedia 1 0
    ATN1 Genopedia 1 0
    AGTR1 Genopedia 1 0
    ECGF1 Genopedia 1 0
    EPHX1 Genopedia 1 0
    ERG Genopedia 1 0
    ETFDH Genopedia 1 0
    CRB1 Genopedia 1 0
    AIPL1 Genopedia 1 0
    CPT2 Genopedia 1 0
    CRX Genopedia 1 0
    trnC Genopedia 1 0
    trnL Genopedia 1 0
    trnF Genopedia 1 0
    trnG Genopedia 1 0
    ND3 Genopedia 1 0
    ATP8 Genopedia 1 0
    RMND1 Genopedia 1 0
    PARL Genopedia 1 0
    trnL Genopedia 1 0
    trnH Genopedia 1 0
    ND4L Genopedia 1 0
    RP2 Genopedia 1 0
    RPE65 Genopedia 1 0
    ATXN1 Genopedia 1 0
    SDHB Genopedia 1 0
    SLC22A5 Genopedia 1 0
    SOD2 Genopedia 1 0
    trnT Genopedia 1 0
    PEO1 Genopedia 1 0
    ADCK3 Genopedia 1 0
    PNPLA2 Genopedia 1 0
    VARS2 Genopedia 1 0
    PTEN Genopedia 1 0
    AARS2 Genopedia 1 0
    PTPN11 Genopedia 1 0
    OPA4 Genopedia 1 0
    ACE2 Genopedia 1 0
    trnI Genopedia 1 0
    trnN Genopedia 1 0
    trnW Genopedia 1 0
    ND2 Genopedia 1 0
    PUS1 Genopedia 1 0
    COLEC12 Genopedia 1 1
    SLC25A12 Genopedia 1 0
    SUCLG1 Genopedia 1 0
    SUCLA2 Genopedia 1 0
    C20orf72 Genopedia 1 0
    NRXN1 Genopedia 1 1
    OPA5 Genopedia 1 0
    TK2 Genopedia 1 0
    TNNI3 Genopedia 1 0
    TNNT2 Genopedia 1 0
    TP53 Genopedia 1 0
    TRNAL2 Genopedia 1 0
    TULP1 Genopedia 1 0
    CEP290 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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