Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.110 GeneticVariation phenotype BEFREE Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. 28111752 2017
CUI: C0036572
Disease: Seizures
Seizures
0.110 Biomarker phenotype HPO