Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy. 22371912

2012
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 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 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 Mutations in antiquitin in individuals with pyridoxine-dependent seizures. 16491085

2006