Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR

Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0036572
Disease: Seizures
Seizures 		0.400 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736

2019
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C0036572
Disease: Seizures
Seizures 		0.110 CausalMutation CLINVAR

Entrez Id: 132
Gene Symbol: ADK
ADK
CUI: C0036572
Disease: Seizures
Seizures 		0.180 CausalMutation CLINVAR

Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR

Entrez Id: 3899
Gene Symbol: AFF3
AFF3
CUI: C0036572
Disease: Seizures
Seizures 		0.400 CausalMutation CLINVAR

Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
CUI: C0036572
Disease: Seizures
Seizures 		0.140 CausalMutation CLINVAR Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. 19128417

2009
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
CUI: C0036572
Disease: Seizures
Seizures 		0.140 CausalMutation CLINVAR Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. 20370816

2010
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
CUI: C0036572
Disease: Seizures
Seizures 		0.140 CausalMutation CLINVAR Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. 29056246

2017
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
CUI: C0036572
Disease: Seizures
Seizures 		0.140 CausalMutation CLINVAR Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. 22784480

2012
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
CUI: C0036572
Disease: Seizures
Seizures 		0.140 CausalMutation CLINVAR Mutations in antiquitin in individuals with pyridoxine-dependent seizures. 16491085

2006
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
CUI: C0036572
Disease: Seizures
Seizures 		0.140 CausalMutation CLINVAR Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. 26224730

2015
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
CUI: C0036572
Disease: Seizures
Seizures 		0.140 CausalMutation CLINVAR Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. 17068770

2007
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
CUI: C0036572
Disease: Seizures
Seizures 		0.140 CausalMutation CLINVAR Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy. 22371912

2012
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR

Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 10195
Gene Symbol: ALG3
ALG3
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR

Entrez Id: 10195
Gene Symbol: ALG3
ALG3
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR

Entrez Id: 23431
Gene Symbol: AP4E1
AP4E1
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR

Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation CLINVAR

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
Entrez Id: 170302
Gene Symbol: ARX
ARX
CUI: C0036572
Disease: Seizures
Seizures 		0.150 GeneticVariation CLINVAR