STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Salaam Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		0.110 Biomarker disease BEFREE Including our previous data, 10 of 14 individuals (71%) with STXBP1 aberrations had the onset of spasms after 1 month, suggesting relatively later onset of epileptic spasms. 20887364 2010
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		0.110 Biomarker disease HPO