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
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
SPTAN1 Q13813 spectrin alpha, non-erythrocytic 1 1.00 0.601 0.615
SNAP25-AS1 SNAP25 antisense RNA 1 0.861 0.077
SNAP25 P60880 synaptosome associated protein 25 Transporter 0.99 0.489 0.808
NID1 P14543 nidogen 1 7.2E-12 0.631 0.577