DisGeNET - a database of gene-disease associations

GRIN2A, glutamate ionotropic receptor NMDA type subunit 2A, 2903

N. diseases: 212; N. variants: 66

Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397514557

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:

rs397514557

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:

rs397514557

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:

rs397514557

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:

rs397518447

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:

rs397518447

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:

rs397518447

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:

rs397518447

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:

rs397518450

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:

rs397518450

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:

rs397518450

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:

rs397518450

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:

rs397518470

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:

rs397518470

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:

rs397518470

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:

rs397518470

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

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

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

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

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:

rs762659685

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:

rs762659685

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:

rs762659685

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:

rs762659685

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:

rs397514557

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