Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003537
Disease: Aphasia
Aphasia
0.140 GeneticVariation disease BEFREE Mutations in the GRIN2A gene, which encodes the GluN2A (glutamate [NMDA] receptor subunit epsilon-1) subunit of the N-methyl-d-aspartate receptor, have been identified in patients with epilepsy-aphasia spectrum disorders, idiopathic focal epilepsies with centrotemporal spikes, and epileptic encephalopathies with severe developmental delay. 29644724 2018
CUI: C0003537
Disease: Aphasia
Aphasia
0.140 GeneticVariation disease BEFREE GRIN2A mutations in epilepsy-aphasia spectrum disorders. 29056244 2018
CUI: C0003537
Disease: Aphasia
Aphasia
0.140 GeneticVariation disease BEFREE To delineate the specific speech deficits in individuals with epilepsy-aphasia syndromes associated with mutations in the glutamate receptor subunit gene GRIN2A. 25596506 2015
CUI: C0003537
Disease: Aphasia
Aphasia
0.140 GeneticVariation disease BEFREE GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 23933818 2013
CUI: C0003537
Disease: Aphasia
Aphasia
0.140 Biomarker disease HPO