Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.120 Biomarker phenotype BEFREE Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330 2016
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.120 Biomarker phenotype BEFREE STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. 21762454 2011
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.120 Biomarker phenotype HPO