STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Disease: Tremor ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040822
Disease: Tremor
Tremor 		0.120 Biomarker phenotype BEFREE Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
CUI: C0040822
Disease: Tremor
Tremor 		0.120 Biomarker phenotype BEFREE STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. 21762454 2011
CUI: C0040822
Disease: Tremor
Tremor 		0.120 Biomarker phenotype HPO