STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Epilepsy, Cryptogenic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		0.300 Biomarker disease CTD_human De novo variants in neurodevelopmental disorders with epilepsy. 29942082 2018