STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Hyperactive behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.120 Biomarker phenotype BEFREE In comparison to the ID group, the STXBP1 group had more severe global adaptive impairments, fine motor difficulties, and hyperactivity. 31387522 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.120 Biomarker phenotype BEFREE They should reflect both the hyper excitable state and the psychomotor delay of STXBP1-E. 28971703 2017
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.120 Biomarker phenotype HPO