Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology. 28095420 2017
dbSNP: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. 28182669 2017
dbSNP: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy. 28126851 2017
dbSNP: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 27839871 2016
dbSNP: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. 24903190 2014
dbSNP: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. 24504326 2014
dbSNP: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 23933819 2013
dbSNP: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 23933818 2013
dbSNP: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 23933820 2013
dbSNP: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 20890276 2010
dbSNP: rs397518471
rs397518471
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
CUI: C3806402
Disease:
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		C 0.800 CausalMutation CLINVAR