Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4706527
Disease: Startle epilepsy
Startle epilepsy
0.010 Biomarker disease BEFREE The coexistence of startle epilepsy and IL1RAPL1 gene deletion in this child may not be coincidental and suggests a possible involvement of IL1RAPL1 in the dysregulation of excitatory synapses and the pathogenesis of startle epilepsy. 24950661 2014