Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
0.010 GeneticVariation phenotype BEFREE Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. 28635423 2017