Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
0.010 Biomarker disease BEFREE Biallelic mutations in the SPATA5 gene, encoding ATPase family protein, are an important cause of newly recognized epileptic encephalopathy classified as epilepsy, hearing loss, and mental retardation syndrome (EHLMRS, OMIM: 616577). 28293831 2017