Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.700 CausalMutation phenotype CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.700 CausalMutation phenotype CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.700 CausalMutation phenotype CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.700 GeneticVariation phenotype CLINVAR
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 CausalMutation phenotype CLINVAR Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. 26138355 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 CausalMutation phenotype CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 CausalMutation phenotype CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 GeneticVariation phenotype CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 GeneticVariation phenotype CLINVAR Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. 25740509 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 CausalMutation phenotype CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 CausalMutation phenotype CLINVAR Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. 24375629 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 GeneticVariation phenotype CLINVAR Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. 24375629 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 CausalMutation phenotype CLINVAR The kick-in system: a novel rapid knock-in strategy. 24586341 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 CausalMutation phenotype CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469 2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 CausalMutation phenotype CLINVAR Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 23621294 2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 CausalMutation phenotype CLINVAR Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 24107868 2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 GeneticVariation phenotype CLINVAR Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 24107868 2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 GeneticVariation phenotype CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469 2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 GeneticVariation phenotype CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 GeneticVariation phenotype CLINVAR Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 22926866 2012
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 GeneticVariation phenotype CLINVAR A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy. 21937445 2011
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 CausalMutation phenotype CLINVAR The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions. 20119593 2010
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.500 GeneticVariation phenotype CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356 2010
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.500 CausalMutation phenotype CLINVAR Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions. 19453707 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.500 GeneticVariation phenotype CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030 2009