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: 6324
Gene Symbol: SCN1B
SCN1B 		sodium voltage-gated channel beta subunit 1 0.575 0.538 0.10
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 		disease 0.700 None 1.000 0 4 1998 2016