STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Lissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.010 GeneticVariation disease BEFREE This defect may disrupt cortical development (e.g., lissencephaly, focal cortical dysplasia), lead to metabolic changes (e.g., pyridoxine-dependent epilepsy, sulfite oxidase deficiency) or lead to cortical dysfunction without metabolic or macroscopic structural changes (e.g., channelopathies, STXBP1). 29426806 2018