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: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 26 2 1995 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		disease 0.720 None 1.000 23 48 2002 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		disease 0.100 None 1.000 9 3 2014 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		disease 0.700 None 1.000 1 5 2014 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.200 None 1.000 0 5 2012 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.900 None 0.971 0 1 2007 2020
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.110 None 1.000 0 1 2019 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.120 None 1.000 0 3 2016 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C3280415
Disease: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 		disease 0.600 None 1.000 0 4 2012 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		disease 0.140 None 1.000 0 3 2014 2020
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
Complex partial seizure with impairment of consciousness 		disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.110 None 1.000 0 1 2006 2006
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 2
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		disease 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0022575
Disease: Keratoconjunctivitis Sicca
Keratoconjunctivitis Sicca 		disease 0.100 None 0 1