Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.130 GeneticVariation disease BEFREE Here we report six novel GRIN2D variants and one previously-described disease-associated GRIN2D variant in two patients with developmental and epileptic encephalopathy. 31504254 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.130 GeneticVariation disease BEFREE Here, we report a de novo recurrent heterozygous missense mutation-c.1999G>A (p.Val667Ile)-in a NMDAR gene previously unrecognized to harbor disease-causing mutations, GRIN2D, identified by exome and candidate panel sequencing in two unrelated children with epileptic encephalopathy. 27616483 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.130 GeneticVariation disease BEFREE Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. 30280376 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.130 Biomarker disease HPO