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
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654
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
HMBS P08397 hydroxymethylbilane synthase Enzyme 0.95 0.559 0.731
STK11 Q15831 serine/threonine kinase 11 Kinase 0.99 0.435 0.808
SH2B3 Q9UQQ2 SH2B adaptor protein 3 1.0E-04 0.527 0.692
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
SERPING1 P05155 serpin family G member 1 Enzyme modulator 0.96 0.507 0.769