Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
G6PC P35575 glucose-6-phosphatase catalytic subunit 1.8E-05 0.560 0.692
WAS P42768 WASP actin nucleation promoting factor Cellular structure 1.00 0.529 0.808
SLC2A2 P11168 solute carrier family 2 member 2 Transporter 3.4E-08 0.572 0.692