Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		disease 0.660 None 0.970 15 43 2001 2018