Source: ALL
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 This study evidenced a variety of de novo variants in CYFIP2 as a novel cause of mostly severe intellectual disability with seizures and muscular hypotonia. 30664714 2019
CUI: C0036572
Disease: Seizures
Seizures
0.110 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures
0.110 Biomarker phenotype HPO