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
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
FLG-AS1 FLG antisense RNA 1 0.700 0.538
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
ENG P17813 endoglin 1.00 0.446 0.846
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
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 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
PIGT Q969N2 phosphatidylinositol glycan anchor biosynthesis class T 7.3E-10 0.633 0.615