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 		0.530 Biomarker disease CTD_human De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812 2008
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.530 GermlineCausalMutation disease ORPHANET We show that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded. 24623842 2014
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.530 Biomarker disease BEFREE We show that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded. 24623842 2014
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.530 GeneticVariation disease BEFREE STXBP1 gene variants have been identified in patients with many different types of epilepsy, including Dravet syndrome and epileptic encephalopathies, suggesting STX1B plays a similar role. 26818399 2016
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.530 GeneticVariation disease BEFREE The STXBP1 mutation in patients with Dravet Syndrome may additionally causes several parkinsonian features usually attributed to carriers of the SCN1A mutation. 29929108 2018