Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.100 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396

2018

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653

2018

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.100 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017

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: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.100 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196

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: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.100 GeneticVariation GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178

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

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement
0.100 GeneticVariation GWASCAT Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502

2012

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3850153
Disease: Ovarian Reserve
Ovarian Reserve
0.100 GeneticVariation GWASDB Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women. 22116950

2012

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C3850153
Disease: Ovarian Reserve
Ovarian Reserve
0.100 GeneticVariation GWASCAT Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women. 22116950

2012

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. 22833210

2011

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. 21572417

2011

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 CausalMutation CLINVAR Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 20890276

2010