Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome
0.640 GeneticVariation disease BEFREE Heterozygous GRIN2A mutations were detected in four patients (G760S, D1385Y, C455Y and C231R) GRIN2A mutation was found in 11.1% (1 out of 9 cases) of LKS, and in 7.1% (3 out of 42 cases) of ABPE, but in none with ECSWS and BECTS. 29056244 2018
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome
0.640 GeneticVariation disease BEFREE We identified a de novo missense mutation in the GRIN2A gene in a patient with childhood focal epilepsy and acquired epileptic aphasia. 28182669 2017
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome
0.640 GeneticVariation disease BEFREE We conclude that immunotherapy should be considered as a therapeutic option in patients with LKS who are also found to harbour GRIN2A mutations. 26806548 2016
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome
0.640 Biomarker disease CTD_human Acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and continuous spike and waves during slow-wave sleep syndrome (CSWSS) represent rare and closely related childhood focal epileptic encephalopathies of unknown etiology. 23933820 2013
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome
0.640 GeneticVariation disease BEFREE GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 23933820 2013
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome
0.640 GermlineCausalMutation disease ORPHANET GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 23933818 2013
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome
0.640 GermlineCausalMutation disease ORPHANET Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 23933819 2013
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome
0.640 GermlineCausalMutation disease ORPHANET Acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and continuous spike and waves during slow-wave sleep syndrome (CSWSS) represent rare and closely related childhood focal epileptic encephalopathies of unknown etiology. 23933820 2013
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome
0.640 Biomarker disease GENOMICS_ENGLAND
CUI: C0282512
Disease: Landau-Kleffner Syndrome
Landau-Kleffner Syndrome
0.640 Biomarker disease GENOMICS_ENGLAND
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.600 GeneticVariation disease UNIPROT A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. 28182669 2017
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.600 GeneticVariation disease UNIPROT Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. 28126851 2017
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.600 GeneticVariation disease UNIPROT Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. 28095420 2017
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.600 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.600 GeneticVariation disease UNIPROT Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 27839871 2016
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.600 GeneticVariation disease UNIPROT Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. 24903190 2014
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.600 GeneticVariation disease UNIPROT Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. 24504326 2014
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.600 GeneticVariation disease UNIPROT GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 23933820 2013
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.600 GeneticVariation disease UNIPROT Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 23933819 2013
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.600 Biomarker disease GENOMICS_ENGLAND GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 23933818 2013
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.600 GeneticVariation disease UNIPROT GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 23933818 2013
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.600 GeneticVariation disease UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.600 GeneticVariation disease UNIPROT Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 20890276 2010
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
0.600 Biomarker disease CTD_human
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.580 AlteredExpression disease BEFREE Two of these showed differential expression in the CC of BD cases: RPS23 was significantly down-regulated (p = 0.0036, fc = 0.80), while GRIN2A showed suggestive evidence of down-regulation in BD (p = 0.056, fc = 0.65). 31652432 2019