Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0036572
Disease: Seizures
Seizures 		0.700 GeneticVariation CLINVAR

Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 22926866

2012
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157

2003
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266

2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. 17089071

2007
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation 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: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR Chronic osteomyelitis in patients with sickle cell disease. 10944834

2000
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation 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
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 24107868

2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR Prenatal diagnosis in Rett syndrome. 12065946

2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR Homozygosity for MECP2 gene in a girl with classical Rett syndrome. 17881312

2008
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. 17475800

2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR Genotype-phenotype correlation in Brazillian Rett syndrome patients. 19722030

2009
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469

2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. 20031356

2010
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation 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
CUI: C0036572
Disease: Seizures
Seizures 		0.500 GeneticVariation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
CUI: C0036572
Disease: Seizures
Seizures 		0.460 GeneticVariation CLINVAR

Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 18546365

2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. 19752458

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 19364868

2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Propofol-related infusion syndrome heralding a mitochondrial disease: case report. 23873972

2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. 20803511

2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation CLINVAR Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 16621917

2006