Source: CLINGEN

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: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease 0.900 definitive 0.974 9 0 2001 2020
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		disease 0.700 moderate 1.000 16 0 2000 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		disease 0.600 definitive 0.983 15 0 2000 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease 0.420 strong 1.000 2 0 2001 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		disease 0.300 strong 1.000 2 0 2017 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease 0.300 strong 1.000 2 0 2017 2019