STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Myoclonic Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.310 GeneticVariation disease BEFREE This patient is the second reported case with 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes associated with epileptic encephalopathy and myoclonic seizures. 29897043 2018
CUI: C0014550
Disease: Myoclonic Epilepsy
Myoclonic Epilepsy 		0.310 Biomarker disease CTD_human De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812 2008