Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.020 GeneticVariation BEFREE However, the case described here presented a unique clinical presentation of typical RTT without EIEE and a novel STXBP1 mutation. 29544889

2018
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.020 Biomarker BEFREE In conclusion, the case described here suggests a relationship between the Rett syndrome and the STXBP1 gene not described so far, making the search for STXBP1 gene mutations advisable in patients with Rett syndrome and early onset of epilepsy. 25714420

2015