Gene: STXBP1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.300 GermlineCausalMutation disease ORPHANET A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420 2015
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.300 GermlineCausalMutation disease ORPHANET In a patient with neonatal onset epilepsy with atypical Rett syndrome, we identified a frameshift deletion in STXBP1. 25914188 2015