Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5413
Gene Symbol: SEPTIN5
SEPTIN5
0.010 Biomarker disease BEFREE This report describes for the first time a patient with SEPT5 deficiency presenting with cortical dysplasia (polymicrogyria), developmental delay, and platelet secretion defect. 21800012 2011