STX1B, syntaxin 1B, 112755

N. diseases: 58; N. variants: 17
Disease: Generalized Epilepsy with Febrile Seizures Plus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		0.300 GermlineCausalMutation disease ORPHANET Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. 25362483 2014