Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar 		0.300 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0024713
Disease: Manic Disorder
Manic Disorder 		0.300 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0338831
Disease: Manic
Manic 		0.300 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		0.300 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0236018
Disease: Aura
Aura 		0.300 Biomarker phenotype CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		0.300 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0149886
Disease: Seizure, Febrile, Simple
Seizure, Febrile, Simple 		0.300 Biomarker disease CTD_human Common variants associated with general and MMR vaccine-related febrile seizures. 25344690 2014
CUI: C0751057
Disease: Seizure, Febrile, Complex
Seizure, Febrile, Complex 		0.300 Biomarker disease CTD_human Common variants associated with general and MMR vaccine-related febrile seizures. 25344690 2014
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		0.300 Biomarker disease CTD_human Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
CUI: C0236018
Disease: Aura
Aura 		0.300 Biomarker phenotype CTD_human Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		0.300 Biomarker disease CTD_human Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		0.300 Biomarker disease CTD_human Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. 16464983 2006
CUI: C0236018
Disease: Aura
Aura 		0.300 Biomarker phenotype CTD_human Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. 16464983 2006
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		0.300 Biomarker disease CTD_human Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2. 16464983 2006
CUI: C1842382
Disease: Epilepsy, Benign Neonatal, 3
Epilepsy, Benign Neonatal, 3 		0.300 Biomarker disease CTD_human
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.360 Biomarker group CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.360 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		0.360 GermlineCausalMutation disease ORPHANET In conclusion, we have identified a de novo SCN2A mutation as the etiology for Ohtahara syndrome in monozygotic twins associated with a unique dentate-olivary dysplasia in the deceased twin. 23550958 2013
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
Early infantile epileptic encephalopathy with suppression bursts 		0.360 GermlineCausalMutation disease ORPHANET We found 14 novel SCN2A missense mutations in 15 patients: 9 of 67 OS cases (13.4%), 1 of 150 West syndrome cases (0.67%), and 5 of 111 with unclassified EOEEs (4.5%). 23935176 2013
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		0.380 GeneticVariation disease ORPHANET
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.400 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.400 GermlineCausalMutation disease ORPHANET This finding suggests that both nonsense mutations and missense SCN2A mutations cause Dravet syndrome. 19783390 2009
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.450 Biomarker disease CTD_human Furthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)). 25344690 2014
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.460 GermlineCausalMutation disease ORPHANET We found 14 novel SCN2A missense mutations in 15 patients: 9 of 67 OS cases (13.4%), 1 of 150 West syndrome cases (0.67%), and 5 of 111 with unclassified EOEEs (4.5%). 23935176 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.500 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018