Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.120 GeneticVariation phenotype BEFREE The GABRD 659 G > A polymorphism may play an important role in the susceptibility of JME and LGS and this polymorphism may also increase the duration of postictal period in JME patients but may decrease the duration of seizure in LGS patients. 29785705 2018
CUI: C0036572
Disease: Seizures
Seizures
0.120 Biomarker phenotype BEFREE Other genes deleted in a subset of the patients likely play a contributory role in the phenotypes, including GABRD and seizures, PRKCZ and neurologic features, and SKI and dysmorphic and neurologic features. 20635359 2010
CUI: C0036572
Disease: Seizures
Seizures
0.120 Biomarker phenotype HPO