Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.110 Biomarker phenotype BEFREE Simultaneous video and EEG recordings revealed that Stxbp1+/- mice with different genomic backgrounds recapitulate the seizure/spasm phenotype observed in humans, characterized by myoclonic jerks and spike-wave discharges that were suppressed by the antiepileptic drug levetiracetam. 29538625 2018
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.110 Biomarker phenotype HPO