Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome
0.320 GeneticVariation disease BEFREE Only one CHD2 mutation was detected in patients with Lennox-Gastaut syndrome. 29314583 2018
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome
0.320 GeneticVariation disease BEFREE Our findings suggest that CHD2 mutations are important in the etiological spectrum of LGS. 24614520 2014
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome
0.320 GermlineCausalMutation disease ORPHANET Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013