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
TRIM8 Q9BZR9 tripartite motif containing 8 0.99 0.588 0.731
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615
YARS2 Q9Y2Z4 tyrosyl-tRNA synthetase 2 Enzyme 3.0E-11 0.663 0.462
DNM1L O00429 dynamin 1 like Enzyme modulator 5.7E-04 0.475 0.808