Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
0.030 GeneticVariation disease BEFREE The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. 30043187 2019
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
0.030 GeneticVariation disease BEFREE Molecular analysis by targeted next-generation sequencing panel for epileptic encephalopathy disclosed a homozygous missense mutation of ALDH7A1. 30005813 2018
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
0.030 GeneticVariation disease BEFREE Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic encephalopathy caused by antiquitin (ALDH7A1) deficiency. 26995068 2016