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 Biomarker HPO

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 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 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 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 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 Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization. 18483067

2008
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 CausalMutation CLINVAR A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. 9425895

1998
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: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 Biomarker HPO

Entrez Id: 627
Gene Symbol: BDNF
BDNF
CUI: C0036572
Disease: Seizures
Seizures 		0.500 Biomarker HPO

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: 351
Gene Symbol: APP
APP
CUI: C0036572
Disease: Seizures
Seizures 		0.500 Biomarker HPO

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 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 CausalMutation CLINVAR Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 23621294

2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 CausalMutation CLINVAR

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

2003
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: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0036572
Disease: Seizures
Seizures 		0.500 Biomarker HPO

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 Biomarker HPO