Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DNAH11 Q96DT5 dynein axonemal heavy chain 11 Enzyme 2.5E-58 0.587 0.692
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462
TUBB6 Q9BUF5 tubulin beta 6 class V Cellular structure 1.7E-04 0.686 0.462
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
STRN4 Q9NRL3 striatin 4 0.99 0.792 0.346