Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 CausalMutation CLINVAR Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients. 27572814

2016
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 CausalMutation CLINVAR Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients. 27572814

2016
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.650 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.430 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.190 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.180 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0036572
Disease: Seizures
Seizures 		0.150 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.110 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.110 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. 28377535

2017
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy. 27605359

2016
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. 24272827

2014
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders. 24999380

2014
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders. 24126926

2014
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. 23718928

2013
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 23933819

2013
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The NMDA receptor as a target for cognitive enhancement. 22796429

2013
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 23933820

2013
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012