Source: INFERRED

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: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		disease 0.800 None 1.000 45 259 2000 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		disease 0.730 None 1.000 5 34 2000 2012
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease 0.700 None 0.939 1 4 2002 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 0 13 2000 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.500 None 0.977 2 2 2001 2020
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		disease 0.500 None 1.000 1 1 2003 2020
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 37 59 2001 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.420 None 1.000 0 0 2012 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.410 None 1.000 19 2 1997 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		disease 0.360 None 1.000 0 1 2001 2020
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.200 None 0.932 0 15 2002 2020
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.200 None 1.000 0 0 2001 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group 0.200 None 0.929 0 0 2006 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.200 None 1.000 0 5 2011 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		disease 0.170 None 1.000 2 2 2008 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		phenotype 0.160 None 1.000 0 0 2007 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease 0.150 None 1.000 0 0 2008 2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease 0.150 None 1.000 0 0 2003 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura 		disease 0.140 None 1.000 0 0 2007 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.130 None 1.000 0 0 2006 2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0456909
Disease: Blindness
Blindness 		phenotype 0.120 None 1.000 0 0 2009 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		disease 0.110 None 1.000 1 2 2009 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C4749367
Disease: Mesial temporal lobe epilepsy with hippocampal sclerosis
Mesial temporal lobe epilepsy with hippocampal sclerosis 		disease 0.110 None 1.000 1 2 2013 2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease 0.110 None 1.000 0 0 2012 2012