STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Infantile Spasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.110 CausalMutation disease CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.110 Biomarker disease BEFREE STXBP1-related encephalopathy may present as drug-responsive infantile spasms with focal/lateralized discharges. 21762454 2011