Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
TUBB4A P04350 tubulin beta 4A class IVa Cellular structure 0.11 0.608 0.615
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
STUB1 Q9UNE7 STIP1 homology and U-box containing protein 1 1.9E-02 0.544 0.692
JMJD8 Q96S16 jumonji domain containing 8 6.1E-14 0.861 0.192
SPTBN2 O15020 spectrin beta, non-erythrocytic 2 9.9E-05 0.619 0.731