Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 Biomarker disease CTD_human
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.500 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.500 Biomarker disease CTD_human Double mutant mice carrying the Scn2a(Q54) transgene together with either of the Kcnq2 mutations exhibited severe epilepsy with early onset, generalized tonic-clonic seizures and juvenile lethality by 3 weeks of age. 16464983 2006
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.500 Biomarker disease CTD_human Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
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: 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: 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: 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: 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: 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: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		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: C0236018
Disease: Aura
Aura 		0.300 Biomarker phenotype 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 De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018
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: C0338831
Disease: Manic
Manic 		0.300 Biomarker disease CTD_human Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
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: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		0.300 Biomarker disease 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 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 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
CUI: C1842382
Disease: Epilepsy, Benign Neonatal, 3
Epilepsy, Benign Neonatal, 3 		0.300 Biomarker disease CTD_human
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GermlineCausalMutation disease ORPHANET Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469 2013
CUI: C0220669
Disease: Familial benign neonatal epilepsy
Familial benign neonatal epilepsy 		0.600 GermlineCausalMutation disease ORPHANET Here, we describe a clinically intermediate variant, benign familial neonatal-infantile seizures, with mutations in the sodium-channel subunit gene SCN2A. 12243921 2002