Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
MPZ P25189 myelin protein zero 0.27 0.503 0.846
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692
CYP27A1 Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 5.3E-19 0.538 0.731
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
SPTLC3 Q9NUV7 serine palmitoyltransferase long chain base subunit 3 Enzyme 3.2E-07 0.821 0.192