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
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
TBCK Q8TEA7 TBC1 domain containing kinase Kinase 2.1E-15 0.650 0.654
FLG-AS1 FLG antisense RNA 1 0.700 0.538
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577
ACTL6A O96019 actin like 6A Cellular structure 1.00 0.678 0.346
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500