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
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577
SLC52A3 Q9NQ40 solute carrier family 52 member 3 Transporter 1.9E-02 0.610 0.654