Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.020 GeneticVariation disease BEFREE This study provides further evidence of GRIN2D variants being causal for epilepsy. 30280376 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.020 GeneticVariation disease BEFREE Overall, these results suggest that NMDAR antagonists can be useful as adjuvant epilepsy therapy in individuals with GRIN2D gain-of-function mutations. 27616483 2016