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 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684

2015

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0036572
Disease: Seizures
Seizures
0.700 CausalMutation CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442

2012

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0036572
Disease: Seizures
Seizures
0.700 CausalMutation CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602

2011

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0036572
Disease: Seizures
Seizures
0.700 Biomarker HPO

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0036572
Disease: Seizures
Seizures
0.700 GeneticVariation CLINVAR

Entrez Id: 6904
Gene Symbol: TBCD
TBCD
CUI: C0036572
Disease: Seizures
Seizures
0.610 Biomarker HPO

Entrez Id: 2593
Gene Symbol: GAMT
GAMT
CUI: C0036572
Disease: Seizures
Seizures
0.600 Biomarker HPO

Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures
0.500 CausalMutation CLINVAR Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. 26138355

2016

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

2015

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: 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: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures
0.500 CausalMutation CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015

Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures
0.500 CausalMutation 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 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 CausalMutation CLINVAR The kick-in system: a novel rapid knock-in strategy. 24586341

2014

Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures
0.500 CausalMutation 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
CUI: C0036572
Disease: Seizures
Seizures
0.500 CausalMutation CLINVAR Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 23621294

2013

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

2013

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: 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: 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: 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 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 CausalMutation CLINVAR The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions. 20119593

2010