Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
USP7 Q93009 ubiquitin specific peptidase 7 Enzyme 1.00 0.538 0.808
DHX30 Q7L2E3 DExH-box helicase 30 Enzyme 1.00 0.722 0.500
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
MED13 Q9UHV7 mediator complex subunit 13 1.00 0.711 0.538