Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615