Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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 CausalMutation 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
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 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: 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: 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 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: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 CausalMutation CLINVAR Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. 14985406

2004
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 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 Prenatal diagnosis in Rett syndrome. 12065946

2003
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 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 Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. 9872318

1998
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 CausalMutation CLINVAR Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 8327138

1993
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 CausalMutation CLINVAR Familial neonatal and infantile seizures: an autosomal-dominant disorder. 6476007

1984
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: 351
Gene Symbol: APP
APP
CUI: C0036572
Disease: Seizures
Seizures 		0.500 Biomarker HPO

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

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 Biomarker HPO

Entrez Id: 7248
Gene Symbol: TSC1
TSC1
CUI: C0036572
Disease: Seizures
Seizures 		0.500 Biomarker HPO

Entrez Id: 7249
Gene Symbol: TSC2
TSC2
CUI: C0036572
Disease: Seizures
Seizures 		0.500 Biomarker HPO

Entrez Id: 3954
Gene Symbol: LETM1
LETM1
CUI: C0036572
Disease: Seizures
Seizures 		0.500 Biomarker HPO