Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTCH1 Q13635 patched 1 1.00 0.398 0.885
SRCAP Q6ZRS2 Snf2 related CREBBP activator protein 1.00 0.610 0.731
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808